Canonical Allele Identifier: CA2620450680

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101768233-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768236del , CM000674.2:g.101768236del	GRCh38
NC_000012.11:g.102162014del , CM000674.1:g.102162014del	GRCh37
NC_000012.10:g.100686145del	NCBI36
NG_021243.1:g.67634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1285-74del MANE Select	ENSP00000299314.7:n.1285-74del
ENST00000299314.11:c.1285-74del	ENSP00000299314.7:n.1285-74del
ENST00000549940.5:c.1285-74del	ENSP00000449150.1:n.1285-74del
NM_024312.4:c.1285-74del	NP_077288.2:n.1285-74del
XM_006719593.2:c.1285-74del	XP_006719656.1:n.1285-74del
XM_011538731.1:c.1204-74del	XP_011537033.1:n.1204-74del
XM_006719593.3:c.1285-74del	XP_006719656.1:n.1285-74del
XM_011538731.2:c.1204-74del	XP_011537033.1:n.1204-74del
XM_017019961.1:c.1069-74del	XP_016875450.1:n.1069-74del
XM_017019962.2:c.58-74del	XP_016875451.1:n.58-74del
NM_024312.5:c.1285-74del MANE Select	NP_077288.2:n.1285-74del