Canonical Allele Identifier: CA2058954297

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760106_101760107delinsGA , CM000674.2:g.101760106_101760107delinsGA	GRCh38
NC_000012.11:g.102153884_102153885delinsGA , CM000674.1:g.102153884_102153885delinsGA	GRCh37
NC_000012.10:g.100678015_100678016delinsGA	NCBI36
NG_021243.1:g.75761_75762delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3172_3173delinsTC MANE Select	ENSP00000299314.7:p.Ser1058=
ENST00000299314.11:c.3172_3173delinsTC	ENSP00000299314.7:p.Ser1058=
ENST00000549194.1:n.38_39delinsTC
NM_024312.4:c.3172_3173delinsTC	NP_077288.2:p.Ser1058=
XM_006719593.2:c.3172_3173delinsTC	XP_006719656.1:p.Ser1058=
XM_011538731.1:c.3091_3092delinsTC	XP_011537033.1:p.Ser1031=
XM_006719593.3:c.3172_3173delinsTC	XP_006719656.1:p.Ser1058=
XM_011538731.2:c.3091_3092delinsTC	XP_011537033.1:p.Ser1031=
XM_017019961.1:c.2956_2957delinsTC	XP_016875450.1:p.Ser986=
XM_017019962.2:c.1945_1946delinsTC	XP_016875451.1:p.Ser649=
NM_024312.5:c.3172_3173delinsTC MANE Select	NP_077288.2:p.Ser1058=