Canonical Allele Identifier: CA2620449761

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830642-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830642_101830643insC , CM000674.2:g.101830642_101830643insC	GRCh38
NC_000012.11:g.102224420_102224421insC , CM000674.1:g.102224420_102224421insC	GRCh37
NC_000012.10:g.100748551_100748552insC	NCBI36
NG_021243.1:g.5225_5226insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.33_34insG MANE Select	ENSP00000299314.7:p.Thr12AspfsTer?
ENST00000647144.1:n.21_22insG
ENST00000299314.11:c.33_34insG	ENSP00000299314.7:p.Thr12AspfsTer?
ENST00000392919.4:c.33_34insG	ENSP00000376651.4:p.Thr12AspfsTer?
ENST00000549165.1:c.33_34insG	ENSP00000450413.1:p.Thr12AspfsTer?
ENST00000549940.5:c.33_34insG	ENSP00000449150.1:p.Thr12AspfsTer?
NM_024312.4:c.33_34insG	NP_077288.2:p.Thr12AspfsTer?
XM_006719593.2:c.33_34insG	XP_006719656.1:p.Thr12AspfsTer?
XM_006719593.3:c.33_34insG	XP_006719656.1:p.Thr12AspfsTer?
XM_017019961.1:c.-117_-116insG	XP_016875450.1:n.-117_-116insG
XM_017019962.2:c.-1318_-1317insG	XP_016875451.1:n.-1318_-1317insG
NM_024312.5:c.33_34insG MANE Select	NP_077288.2:p.Thr12AspfsTer?