Canonical Allele Identifier: CA666502

Gene: ALPL

Linked Data

• dbSNP Id: rs756920819
• ExAC: 1:21890485 GACA / G
• gnomAD v2: 1-21890485-GACA-G
• gnomAD v4: 1-21563992-GACA-G
• MyVariant Identifiers: chr1:g.21890486_21890488del (hg19) ; chr1:g.21563993_21563995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563993_21563995del , CM000663.2:g.21563993_21563995del	GRCh38
NC_000001.10:g.21890486_21890488del , CM000663.1:g.21890486_21890488del	GRCh37
NC_000001.9:g.21763073_21763075del	NCBI36
NG_008940.1:g.59629_59631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.473-48_473-46del MANE Select	ENSP00000363973.3:n.473-48_473-46del
ENST00000374832.5:c.473-48_473-46del	ENSP00000363965.1:n.473-48_473-46del
ENST00000374840.7:c.473-48_473-46del	ENSP00000363973.3:n.473-48_473-46del
ENST00000468526.1:n.533-48_533-46del
ENST00000539907.5:c.242-48_242-46del	ENSP00000437674.1:n.242-48_242-46del
ENST00000540617.5:c.308-48_308-46del	ENSP00000442672.1:n.308-48_308-46del
NM_000478.4:c.473-48_473-46del	NP_000469.3:n.473-48_473-46del
NM_001127501.2:c.308-48_308-46del	NP_001120973.2:n.308-48_308-46del
NM_001177520.1:c.242-48_242-46del	NP_001170991.1:n.242-48_242-46del
XM_005245818.1:c.473-48_473-46del	XP_005245875.1:n.473-48_473-46del
XM_005245820.2:c.473-48_473-46del	XP_005245877.1:n.473-48_473-46del
XM_006710546.1:c.473-48_473-46del	XP_006710609.1:n.473-48_473-46del
NM_000478.5:c.473-48_473-46del	NP_000469.3:n.473-48_473-46del
NM_001127501.3:c.308-48_308-46del	NP_001120973.2:n.308-48_308-46del
NM_001177520.2:c.242-48_242-46del	NP_001170991.1:n.242-48_242-46del
XM_006710546.3:c.473-48_473-46del	XP_006710609.1:n.473-48_473-46del
XM_017000903.1:c.317-48_317-46del	XP_016856392.1:n.317-48_317-46del
NM_000478.6:c.473-48_473-46del MANE Select	NP_000469.3:n.473-48_473-46del
NM_001127501.4:c.308-48_308-46del	NP_001120973.2:n.308-48_308-46del
NM_001177520.3:c.242-48_242-46del	NP_001170991.1:n.242-48_242-46del
NM_001369803.2:c.473-48_473-46del	NP_001356732.1:n.473-48_473-46del
NM_001369804.2:c.473-48_473-46del	NP_001356733.1:n.473-48_473-46del
NM_001369805.2:c.473-48_473-46del	NP_001356734.1:n.473-48_473-46del