Canonical Allele Identifier: CA2620451682

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770197-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770199_101770200del , CM000674.2:g.101770199_101770200del	GRCh38
NC_000012.11:g.102163977_102163978del , CM000674.1:g.102163977_102163978del	GRCh37
NC_000012.10:g.100688108_100688109del	NCBI36
NG_021243.1:g.65669_65670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-8_1114-7del MANE Select	ENSP00000299314.7:n.1114-8_1114-7del
ENST00000299314.11:c.1114-8_1114-7del	ENSP00000299314.7:n.1114-8_1114-7del
ENST00000549940.5:c.1114-8_1114-7del	ENSP00000449150.1:n.1114-8_1114-7del
NM_024312.4:c.1114-8_1114-7del	NP_077288.2:n.1114-8_1114-7del
XM_006719593.2:c.1114-8_1114-7del	XP_006719656.1:n.1114-8_1114-7del
XM_011538731.1:c.1033-8_1033-7del	XP_011537033.1:n.1033-8_1033-7del
XM_006719593.3:c.1114-8_1114-7del	XP_006719656.1:n.1114-8_1114-7del
XM_011538731.2:c.1033-8_1033-7del	XP_011537033.1:n.1033-8_1033-7del
XM_017019961.1:c.898-8_898-7del	XP_016875450.1:n.898-8_898-7del
XM_017019962.2:c.-114-8_-114-7del	XP_016875451.1:n.-114-8_-114-7del
NM_024312.5:c.1114-8_1114-7del MANE Select	NP_077288.2:n.1114-8_1114-7del