Canonical Allele Identifier: CA2620452167

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770521-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770523_101770525del , CM000674.2:g.101770523_101770525del	GRCh38
NC_000012.11:g.102164301_102164303del , CM000674.1:g.102164301_102164303del	GRCh37
NC_000012.10:g.100688432_100688434del	NCBI36
NG_021243.1:g.65344_65346del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.995_997del MANE Select	ENSP00000299314.7:p.Ser332del
ENST00000299314.11:c.995_997del	ENSP00000299314.7:p.Ser332del
ENST00000549940.5:c.995_997del	ENSP00000449150.1:p.Ser332del
NM_024312.4:c.995_997del	NP_077288.2:p.Ser332del
XM_006719593.2:c.995_997del	XP_006719656.1:p.Ser332del
XM_011538731.1:c.914_916del	XP_011537033.1:p.Ser305del
XM_006719593.3:c.995_997del	XP_006719656.1:p.Ser332del
XM_011538731.2:c.914_916del	XP_011537033.1:p.Ser305del
XM_017019961.1:c.779_781del	XP_016875450.1:p.Ser260del
XM_017019962.2:c.-233_-231del	XP_016875451.1:n.-233_-231del
NM_024312.5:c.995_997del MANE Select	NP_077288.2:p.Ser332del