Canonical Allele Identifier: CA2620446451

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786328-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786332_101786334del , CM000674.2:g.101786332_101786334del	GRCh38
NC_000012.11:g.102180110_102180112del , CM000674.1:g.102180110_102180112del	GRCh37
NC_000012.10:g.100704241_100704243del	NCBI36
NG_021243.1:g.49537_49539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-114_366-112del MANE Select	ENSP00000299314.7:n.366-114_366-112del
ENST00000299314.11:c.366-114_366-112del	ENSP00000299314.7:n.366-114_366-112del
ENST00000549940.5:c.366-114_366-112del	ENSP00000449150.1:n.366-114_366-112del
ENST00000550352.1:n.160-114_160-112del
NM_024312.4:c.366-114_366-112del	NP_077288.2:n.366-114_366-112del
XM_006719593.2:c.366-114_366-112del	XP_006719656.1:n.366-114_366-112del
XM_011538731.1:c.285-114_285-112del	XP_011537033.1:n.285-114_285-112del
XM_006719593.3:c.366-114_366-112del	XP_006719656.1:n.366-114_366-112del
XM_011538731.2:c.285-114_285-112del	XP_011537033.1:n.285-114_285-112del
XM_017019961.1:c.150-114_150-112del	XP_016875450.1:n.150-114_150-112del
XM_017019962.2:c.-985-114_-985-112del	XP_016875451.1:n.-985-114_-985-112del
NM_024312.5:c.366-114_366-112del MANE Select	NP_077288.2:n.366-114_366-112del