Canonical Allele Identifier: CA828480843

Gene: PHIP

Linked Data

• dbSNP Id: rs1424123892
• gnomAD v3: 6-79043110-AAAG-A
• gnomAD v4: 6-79043110-AAAG-A
• MyVariant Identifiers: chr6:g.79752828_79752830del (hg19) ; chr6:g.79043111_79043113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79043114_79043116del , CM000668.2:g.79043114_79043116del	GRCh38
NC_000006.11:g.79752831_79752833del , CM000668.1:g.79752831_79752833del	GRCh37
NC_000006.10:g.79809550_79809552del	NCBI36
NG_051932.1:g.40186_40188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.458-110_458-108del	ENSP00000514753.1:n.458-110_458-108del
ENST00000700013.1:c.458-110_458-108del	ENSP00000514754.1:n.458-110_458-108del
ENST00000700114.1:c.380-110_380-108del	ENSP00000514808.1:n.380-110_380-108del
ENST00000700115.1:c.440-110_440-108del	ENSP00000514809.1:n.440-110_440-108del
ENST00000700118.1:c.440-110_440-108del	ENSP00000514810.1:n.440-110_440-108del
ENST00000700119.1:c.*251-110_*251-108del	ENSP00000514811.1:n.*251-110_*251-108del
ENST00000700120.1:n.368-110_368-108del
ENST00000275034.5:c.440-110_440-108del MANE Select	ENSP00000275034.3:n.440-110_440-108del
ENST00000275034.4:c.440-110_440-108del	ENSP00000275034.3:n.440-110_440-108del
NM_017934.5:c.440-110_440-108del	NP_060404.3:n.440-110_440-108del
XM_005248729.3:c.440-110_440-108del	XP_005248786.1:n.440-110_440-108del
XM_011535917.1:c.440-110_440-108del	XP_011534219.1:n.440-110_440-108del
XM_011535918.1:c.-77-110_-77-108del	XP_011534220.1:n.-77-110_-77-108del
XM_011535919.1:c.440-110_440-108del	XP_011534221.1:n.440-110_440-108del
XR_942499.1:n.666-110_666-108del
NM_017934.6:c.440-110_440-108del	NP_060404.4:n.440-110_440-108del
XM_005248729.5:c.440-110_440-108del	XP_005248786.1:n.440-110_440-108del
XM_011535918.3:c.-77-110_-77-108del	XP_011534220.1:n.-77-110_-77-108del
XM_017010989.2:c.-1290-110_-1290-108del	XP_016866478.1:n.-1290-110_-1290-108del
XM_017010990.2:c.-1290-110_-1290-108del	XP_016866479.1:n.-1290-110_-1290-108del
NM_017934.7:c.440-110_440-108del MANE Select	NP_060404.4:n.440-110_440-108del