Canonical Allele Identifier: CA819074170

Gene: PHACTR1

Linked Data

• dbSNP Id: rs1458771085
• gnomAD v3: 6-13225650-ACT-A
• gnomAD v4: 6-13225650-ACT-A
• MyVariant Identifiers: chr6:g.13225883_13225884del (hg19) ; chr6:g.13225651_13225652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.13225655_13225656del , CM000668.2:g.13225655_13225656del	GRCh38
NC_000006.11:g.13225887_13225888del , CM000668.1:g.13225887_13225888del	GRCh37
NC_000006.10:g.13333866_13333867del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000675203.2:c.1197-2161_1197-2160del	ENSP00000502172.2:n.1197-2161_1197-2160de...
ENST00000687600.1:c.918-2161_918-2160del	ENSP00000509410.1:n.918-2161_918-2160del
ENST00000689548.1:c.849-2161_849-2160del	ENSP00000509837.1:n.849-2161_849-2160del
ENST00000692502.1:n.883+19519_883+19520del
ENST00000692995.1:c.711-2161_711-2160del	ENSP00000509690.1:n.711-2161_711-2160del
ENST00000693693.1:n.1853-2161_1853-2160del
ENST00000332995.12:c.987-2161_987-2160del MANE Select	ENSP00000329880.8:n.987-2161_987-2160del
ENST00000482982.2:c.711-2161_711-2160del	ENSP00000501726.1:n.711-2161_711-2160del
ENST00000674595.1:c.987-2161_987-2160del	ENSP00000502157.1:n.987-2161_987-2160del
ENST00000674637.1:c.987-2161_987-2160del	ENSP00000501634.1:n.987-2161_987-2160del
ENST00000674953.1:n.568-2161_568-2160del
ENST00000675203.1:c.1071-2161_1071-2160del	ENSP00000502172.1:n.1071-2161_1071-2160de...
ENST00000676159.1:c.987-2161_987-2160del	ENSP00000501921.1:n.987-2161_987-2160del
ENST00000676234.1:c.711-2161_711-2160del	ENSP00000502037.1:n.711-2161_711-2160del
ENST00000332995.11:c.987-2161_987-2160del	ENSP00000329880.8:n.987-2161_987-2160del
ENST00000379350.5:c.987-2161_987-2160del	ENSP00000368655.1:n.987-2161_987-2160del
ENST00000415087.5:c.711-2161_711-2160del	ENSP00000395948.2:n.711-2161_711-2160del
ENST00000434977.1:c.530-4519_530-4518del	ENSP00000412573.1:n.530-4519_530-4518del
NM_001242648.1:c.987-2161_987-2160del	NP_001229577.1:n.987-2161_987-2160del
NM_030948.2:c.987-2161_987-2160del	NP_112210.1:n.987-2161_987-2160del
XM_005248933.1:c.1194-2161_1194-2160del	XP_005248990.1:n.1194-2161_1194-2160del
XM_005248934.1:c.1194-2161_1194-2160del	XP_005248991.1:n.1194-2161_1194-2160del
XM_005248935.3:c.1194-2161_1194-2160del	XP_005248992.1:n.1194-2161_1194-2160del
XM_005248936.3:c.918-2161_918-2160del	XP_005248993.1:n.918-2161_918-2160del
XM_005248937.2:c.711-2161_711-2160del	XP_005248994.1:n.711-2161_711-2160del
XM_006715021.2:c.1197-2161_1197-2160del	XP_006715084.1:n.1197-2161_1197-2160del
XM_011514390.1:c.1194-2161_1194-2160del	XP_011512692.1:n.1194-2161_1194-2160del
XM_011514391.1:c.984-2161_984-2160del	XP_011512693.1:n.984-2161_984-2160del
XM_011514392.1:c.918-2161_918-2160del	XP_011512694.1:n.918-2161_918-2160del
XR_926491.1:n.763+765_763+766del
XR_926492.1:n.639+765_639+766del
NM_001242648.2:c.987-2161_987-2160del	NP_001229577.1:n.987-2161_987-2160del
NM_001322308.1:c.987-2161_987-2160del	NP_001309237.1:n.987-2161_987-2160del
NM_001322309.1:c.987-2161_987-2160del	NP_001309238.1:n.987-2161_987-2160del
NM_001322310.1:c.1194-2161_1194-2160del	NP_001309239.1:n.1194-2161_1194-2160del
NM_001322311.1:c.711-2161_711-2160del	NP_001309240.1:n.711-2161_711-2160del
NM_001322312.1:c.711-2161_711-2160del	NP_001309241.1:n.711-2161_711-2160del
NM_001322313.1:c.918-2161_918-2160del	NP_001309242.1:n.918-2161_918-2160del
NM_001322314.1:c.1197-2161_1197-2160del	NP_001309243.1:n.1197-2161_1197-2160del
NM_030948.3:c.987-2161_987-2160del	NP_112210.1:n.987-2161_987-2160del
XM_005248934.3:c.1194-2161_1194-2160del	XP_005248991.1:n.1194-2161_1194-2160del
XM_017010452.2:c.1197-2161_1197-2160del	XP_016865941.1:n.1197-2161_1197-2160del
XM_017010454.2:c.1194-2161_1194-2160del	XP_016865943.1:n.1194-2161_1194-2160del
XM_017010455.2:c.1194-2161_1194-2160del	XP_016865944.1:n.1194-2161_1194-2160del
XM_017010456.2:c.1194-2161_1194-2160del	XP_016865945.1:n.1194-2161_1194-2160del
XM_017010457.2:c.1194-2161_1194-2160del	XP_016865946.1:n.1194-2161_1194-2160del
XM_017010458.2:c.990-2161_990-2160del	XP_016865947.1:n.990-2161_990-2160del
XM_017010459.2:c.987-2161_987-2160del	XP_016865948.1:n.987-2161_987-2160del
XM_017010460.2:c.987-2161_987-2160del	XP_016865949.1:n.987-2161_987-2160del
XM_017010461.2:c.987-2161_987-2160del	XP_016865950.1:n.987-2161_987-2160del
XM_017010462.2:c.987-2161_987-2160del	XP_016865951.1:n.987-2161_987-2160del
XM_017010464.2:c.990-2161_990-2160del	XP_016865953.1:n.990-2161_990-2160del
XM_017010465.2:c.918-2161_918-2160del	XP_016865954.1:n.918-2161_918-2160del
XM_017010466.2:c.918-2161_918-2160del	XP_016865955.1:n.918-2161_918-2160del
XM_017010467.2:c.711-2161_711-2160del	XP_016865956.1:n.711-2161_711-2160del
XM_017010469.2:c.711-2161_711-2160del	XP_016865958.1:n.711-2161_711-2160del
XR_926491.2:n.777+765_777+766del
XR_926492.2:n.634+765_634+766del
NM_001242648.3:c.987-2161_987-2160del	NP_001229577.1:n.987-2161_987-2160del
NM_001322308.2:c.987-2161_987-2160del	NP_001309237.1:n.987-2161_987-2160del
NM_001322309.2:c.987-2161_987-2160del	NP_001309238.1:n.987-2161_987-2160del
NM_001322312.2:c.711-2161_711-2160del	NP_001309241.1:n.711-2161_711-2160del
NM_001322314.3:c.1197-2161_1197-2160del	NP_001309243.1:n.1197-2161_1197-2160del
NM_001374581.1:c.987-2161_987-2160del	NP_001361510.1:n.987-2161_987-2160del
NM_001374582.1:c.1194-2161_1194-2160del	NP_001361511.1:n.1194-2161_1194-2160del
NM_001374583.1:c.711-2161_711-2160del	NP_001361512.1:n.711-2161_711-2160del
NM_030948.5:c.987-2161_987-2160del	NP_112210.1:n.987-2161_987-2160del
NM_001242648.4:c.987-2161_987-2160del	NP_001229577.1:n.987-2161_987-2160del
NM_001322308.3:c.987-2161_987-2160del	NP_001309237.1:n.987-2161_987-2160del
NM_001322309.3:c.987-2161_987-2160del	NP_001309238.1:n.987-2161_987-2160del
NM_001322310.2:c.1194-2161_1194-2160del	NP_001309239.1:n.1194-2161_1194-2160del
NM_001322311.2:c.711-2161_711-2160del	NP_001309240.1:n.711-2161_711-2160del
NM_001322312.3:c.711-2161_711-2160del	NP_001309241.1:n.711-2161_711-2160del
NM_001322313.2:c.918-2161_918-2160del	NP_001309242.1:n.918-2161_918-2160del
NM_001322314.4:c.1197-2161_1197-2160del	NP_001309243.1:n.1197-2161_1197-2160del
NM_001374581.2:c.987-2161_987-2160del	NP_001361510.1:n.987-2161_987-2160del
NM_001374583.2:c.711-2161_711-2160del	NP_001361512.1:n.711-2161_711-2160del
NM_030948.6:c.987-2161_987-2160del MANE Select	NP_112210.1:n.987-2161_987-2160del