Canonical Allele Identifier: CA568280114

Gene: PHIP

Linked Data

• dbSNP Id: rs1239474918
• gnomAD v2: 6-79752868-TTAAAG-T
• gnomAD v3: 6-79043151-TTAAAG-T
• gnomAD v4: 6-79043151-TTAAAG-T
• MyVariant Identifiers: chr6:g.79752869_79752873del (hg19) ; chr6:g.79043152_79043156del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79043155_79043159del , CM000668.2:g.79043155_79043159del	GRCh38
NC_000006.11:g.79752872_79752876del , CM000668.1:g.79752872_79752876del	GRCh37
NC_000006.10:g.79809591_79809595del	NCBI36
NG_051932.1:g.40143_40147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.458-153_458-149del	ENSP00000514753.1:n.458-153_458-149del
ENST00000700013.1:c.458-153_458-149del	ENSP00000514754.1:n.458-153_458-149del
ENST00000700114.1:c.380-153_380-149del	ENSP00000514808.1:n.380-153_380-149del
ENST00000700115.1:c.440-153_440-149del	ENSP00000514809.1:n.440-153_440-149del
ENST00000700118.1:c.440-153_440-149del	ENSP00000514810.1:n.440-153_440-149del
ENST00000700119.1:c.*251-153_*251-149del	ENSP00000514811.1:n.*251-153_*251-149del
ENST00000700120.1:n.368-153_368-149del
ENST00000275034.5:c.440-153_440-149del MANE Select	ENSP00000275034.3:n.440-153_440-149del
ENST00000275034.4:c.440-153_440-149del	ENSP00000275034.3:n.440-153_440-149del
NM_017934.5:c.440-153_440-149del	NP_060404.3:n.440-153_440-149del
XM_005248729.3:c.440-153_440-149del	XP_005248786.1:n.440-153_440-149del
XM_011535917.1:c.440-153_440-149del	XP_011534219.1:n.440-153_440-149del
XM_011535918.1:c.-77-153_-77-149del	XP_011534220.1:n.-77-153_-77-149del
XM_011535919.1:c.440-153_440-149del	XP_011534221.1:n.440-153_440-149del
XR_942499.1:n.666-153_666-149del
NM_017934.6:c.440-153_440-149del	NP_060404.4:n.440-153_440-149del
XM_005248729.5:c.440-153_440-149del	XP_005248786.1:n.440-153_440-149del
XM_011535918.3:c.-77-153_-77-149del	XP_011534220.1:n.-77-153_-77-149del
XM_017010989.2:c.-1290-153_-1290-149del	XP_016866478.1:n.-1290-153_-1290-149del
XM_017010990.2:c.-1290-153_-1290-149del	XP_016866479.1:n.-1290-153_-1290-149del
NM_017934.7:c.440-153_440-149del MANE Select	NP_060404.4:n.440-153_440-149del