Canonical Allele Identifier: CA2620450344

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830715-CCGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830717_101830721del , CM000674.2:g.101830717_101830721del	GRCh38
NC_000012.11:g.102224495_102224499del , CM000674.1:g.102224495_102224499del	GRCh37
NC_000012.10:g.100748626_100748630del	NCBI36
NG_021243.1:g.5148_5152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-45_-41del MANE Select	ENSP00000299314.7:n.-45_-41del
ENST00000299314.11:c.-45_-41del	ENSP00000299314.7:n.-45_-41del
ENST00000392919.4:c.-45_-41del	ENSP00000376651.4:n.-45_-41del
ENST00000549940.5:c.-45_-41del	ENSP00000449150.1:n.-45_-41del
NM_024312.4:c.-45_-41del	NP_077288.2:n.-45_-41del
XM_006719593.2:c.-45_-41del	XP_006719656.1:n.-45_-41del
XM_006719593.3:c.-45_-41del	XP_006719656.1:n.-45_-41del
XM_017019961.1:c.-194_-190del	XP_016875450.1:n.-194_-190del
XM_017019962.2:c.-1395_-1391del	XP_016875451.1:n.-1395_-1391del
NM_024312.5:c.-45_-41del MANE Select	NP_077288.2:n.-45_-41del