Canonical Allele Identifier: CA2620450425

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830734-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830735del , CM000674.2:g.101830735del	GRCh38
NC_000012.11:g.102224513del , CM000674.1:g.102224513del	GRCh37
NC_000012.10:g.100748644del	NCBI36
NG_021243.1:g.5133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-60del MANE Select	ENSP00000299314.7:n.-60del
ENST00000299314.11:c.-60del	ENSP00000299314.7:n.-60del
ENST00000392919.4:c.-60del	ENSP00000376651.4:n.-60del
ENST00000549940.5:c.-60del	ENSP00000449150.1:n.-60del
NM_024312.4:c.-60del	NP_077288.2:n.-60del
XM_006719593.2:c.-60del	XP_006719656.1:n.-60del
XM_006719593.3:c.-60del	XP_006719656.1:n.-60del
XM_017019961.1:c.-209del	XP_016875450.1:n.-209del
XM_017019962.2:c.-1410del	XP_016875451.1:n.-1410del
NM_024312.5:c.-60del MANE Select	NP_077288.2:n.-60del