Canonical Allele Identifier: CA2620450329

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830713-AGCCGCCGCCGCCGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830723_101830737del , CM000674.2:g.101830723_101830737del	GRCh38
NC_000012.11:g.102224501_102224515del , CM000674.1:g.102224501_102224515del	GRCh37
NC_000012.10:g.100748632_100748646del	NCBI36
NG_021243.1:g.5140_5154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-53_-39del MANE Select	ENSP00000299314.7:n.-53_-39del
ENST00000299314.11:c.-53_-39del	ENSP00000299314.7:n.-53_-39del
ENST00000392919.4:c.-53_-39del	ENSP00000376651.4:n.-53_-39del
ENST00000549940.5:c.-53_-39del	ENSP00000449150.1:n.-53_-39del
NM_024312.4:c.-53_-39del	NP_077288.2:n.-53_-39del
XM_006719593.2:c.-53_-39del	XP_006719656.1:n.-53_-39del
XM_006719593.3:c.-53_-39del	XP_006719656.1:n.-53_-39del
XM_017019961.1:c.-202_-188del	XP_016875450.1:n.-202_-188del
XM_017019962.2:c.-1403_-1389del	XP_016875451.1:n.-1403_-1389del
NM_024312.5:c.-53_-39del MANE Select	NP_077288.2:n.-53_-39del