Canonical Allele Identifier: CA2620428759

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761700-GTTGCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761701_101761708del , CM000674.2:g.101761701_101761708del	GRCh38
NC_000012.11:g.102155479_102155486del , CM000674.1:g.102155479_102155486del	GRCh37
NC_000012.10:g.100679610_100679617del	NCBI36
NG_021243.1:g.74160_74167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2771_2778del MANE Select	ENSP00000299314.7:p.Gly924AlafsTer14
ENST00000299314.11:c.2771_2778del	ENSP00000299314.7:p.Gly924AlafsTer14
NM_024312.4:c.2771_2778del	NP_077288.2:p.Gly924AlafsTer14
XM_006719593.2:c.2771_2778del	XP_006719656.1:p.Gly924AlafsTer14
XM_011538731.1:c.2690_2697del	XP_011537033.1:p.Gly897AlafsTer14
XM_006719593.3:c.2771_2778del	XP_006719656.1:p.Gly924AlafsTer14
XM_011538731.2:c.2690_2697del	XP_011537033.1:p.Gly897AlafsTer14
XM_017019961.1:c.2555_2562del	XP_016875450.1:p.Gly852AlafsTer14
XM_017019962.2:c.1544_1551del	XP_016875451.1:p.Gly515AlafsTer14
NM_024312.5:c.2771_2778del MANE Select	NP_077288.2:p.Gly924AlafsTer14