Canonical Allele Identifier: CA2620450380

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830722-CGCCGCCGCCGCCGCCTCAGCGAGCCGCCATTCAGGGGCCCCGGTCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830731_101830777del , CM000674.2:g.101830731_101830777del	GRCh38
NC_000012.11:g.102224509_102224555del , CM000674.1:g.102224509_102224555del	GRCh37
NC_000012.10:g.100748640_100748686del	NCBI36
NG_021243.1:g.5099_5145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-94_-48del MANE Select	ENSP00000299314.7:n.-94_-48del
ENST00000299314.11:c.-94_-48del	ENSP00000299314.7:n.-94_-48del
ENST00000392919.4:c.-94_-48del	ENSP00000376651.4:n.-94_-48del
ENST00000549940.5:c.-94_-48del	ENSP00000449150.1:n.-94_-48del
NM_024312.4:c.-94_-48del	NP_077288.2:n.-94_-48del
XM_006719593.2:c.-94_-48del	XP_006719656.1:n.-94_-48del
XM_006719593.3:c.-94_-48del	XP_006719656.1:n.-94_-48del
XM_017019961.1:c.-243_-197del	XP_016875450.1:n.-243_-197del
XM_017019962.2:c.-1444_-1398del	XP_016875451.1:n.-1444_-1398del
NM_024312.5:c.-94_-48del MANE Select	NP_077288.2:n.-94_-48del