Canonical Allele Identifier: CA2620450724

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830810-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830811_101830812del , CM000674.2:g.101830811_101830812del	GRCh38
NC_000012.11:g.102224589_102224590del , CM000674.1:g.102224589_102224590del	GRCh37
NC_000012.10:g.100748720_100748721del	NCBI36
NG_021243.1:g.5056_5057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-137_-136del MANE Select	ENSP00000299314.7:n.-137_-136del
ENST00000299314.11:c.-137_-136del	ENSP00000299314.7:n.-137_-136del
ENST00000392919.4:c.-137_-136del	ENSP00000376651.4:n.-137_-136del
ENST00000549940.5:c.-137_-136del	ENSP00000449150.1:n.-137_-136del
NM_024312.4:c.-137_-136del	NP_077288.2:n.-137_-136del
XM_006719593.2:c.-137_-136del	XP_006719656.1:n.-137_-136del
XM_006719593.3:c.-137_-136del	XP_006719656.1:n.-137_-136del
XM_017019961.1:c.-286_-285del	XP_016875450.1:n.-286_-285del
XM_017019962.2:c.-1487_-1486del	XP_016875451.1:n.-1487_-1486del
NM_024312.5:c.-137_-136del MANE Select	NP_077288.2:n.-137_-136del