Canonical Allele Identifier: CA620700262

Gene: GNPTG

Linked Data

• dbSNP Id: rs1381690623
• gnomAD v2: 16-1412850-A-AACTC
• gnomAD v4: 16-1362849-A-AACTC
• MyVariant Identifiers: chr16:g.1412850_1412851insACTC (hg19) ; chr16:g.1362849_1362850insACTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362849_1362850insACTC , CM000678.2:g.1362849_1362850insACTC	GRCh38
NC_000016.9:g.1412850_1412851insACTC , CM000678.1:g.1412850_1412851insACTC	GRCh37
NC_000016.8:g.1352851_1352852insACTC	NCBI36
NG_016985.1:g.15951_15952insACTC
NG_033129.1:g.56855_56856insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.865_866insACTC
ENST00000529110.2:c.850_851insACTC	ENSP00000435349.2:p.Ile284AsnfsTer?
ENST00000529957.6:n.824_825insACTC
ENST00000683366.1:c.*498_*499insACTC	ENSP00000507283.1:n.*498_*499insACTC
ENST00000683887.1:c.814_815insACTC	ENSP00000506886.1:p.Ile272AsnfsTer?
ENST00000684100.1:n.760_761insACTC
ENST00000684126.1:n.900_901insACTC
ENST00000684688.1:n.1391_1392insACTC
ENST00000204679.9:c.766_767insACTC MANE Select	ENSP00000204679.4:p.Ile256AsnfsTer?
ENST00000204679.8:c.766_767insACTC	ENSP00000204679.4:p.Ile256AsnfsTer?
ENST00000527076.1:n.1989_1990insACTC
ENST00000527168.5:n.933_934insACTC
ENST00000529957.5:n.865_866insACTC
NM_032520.4:c.766_767insACTC	NP_115909.1:p.Ile256AsnfsTer?
XM_017023782.1:c.814_815insACTC	XP_016879271.1:p.Ile272AsnfsTer?
XM_017023783.1:c.406_407insACTC	XP_016879272.1:p.Ile136AsnfsTer?
NM_032520.5:c.766_767insACTC MANE Select	NP_115909.1:p.Ile256AsnfsTer?