Canonical Allele Identifier: CA2620445321

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101785846-TGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785847_101785850del , CM000674.2:g.101785847_101785850del	GRCh38
NC_000012.11:g.102179625_102179628del , CM000674.1:g.102179625_102179628del	GRCh37
NC_000012.10:g.100703756_100703759del	NCBI36
NG_021243.1:g.50018_50021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+162_571+165del MANE Select	ENSP00000299314.7:n.571+162_571+165del
ENST00000299314.11:c.571+162_571+165del	ENSP00000299314.7:n.571+162_571+165del
ENST00000549940.5:c.571+162_571+165del	ENSP00000449150.1:n.571+162_571+165del
ENST00000550352.1:n.527_530del
ENST00000552681.1:c.205+162_205+165del	ENSP00000449217.1:n.205+162_205+165del
NM_024312.4:c.571+162_571+165del	NP_077288.2:n.571+162_571+165del
XM_006719593.2:c.571+162_571+165del	XP_006719656.1:n.571+162_571+165del
XM_011538731.1:c.490+162_490+165del	XP_011537033.1:n.490+162_490+165del
XM_006719593.3:c.571+162_571+165del	XP_006719656.1:n.571+162_571+165del
XM_011538731.2:c.490+162_490+165del	XP_011537033.1:n.490+162_490+165del
XM_017019961.1:c.355+162_355+165del	XP_016875450.1:n.355+162_355+165del
XM_017019962.2:c.-780+162_-780+165del	XP_016875451.1:n.-780+162_-780+165del
NM_024312.5:c.571+162_571+165del MANE Select	NP_077288.2:n.571+162_571+165del