Canonical Allele Identifier: CA2575265076

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770582del , CM000674.2:g.101770582del	GRCh38
NC_000012.11:g.102164360del , CM000674.1:g.102164360del	GRCh37
NC_000012.10:g.100688491del	NCBI36
NG_021243.1:g.65287del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.938del MANE Select	ENSP00000299314.7:p.Lys313SerfsTer17
ENST00000299314.11:c.938del	ENSP00000299314.7:p.Lys313SerfsTer17
ENST00000549940.5:c.938del	ENSP00000449150.1:p.Lys313SerfsTer17
NM_024312.4:c.938del	NP_077288.2:p.Lys313SerfsTer17
XM_006719593.2:c.938del	XP_006719656.1:p.Lys313SerfsTer17
XM_011538731.1:c.857del	XP_011537033.1:p.Lys286SerfsTer17
XM_006719593.3:c.938del	XP_006719656.1:p.Lys313SerfsTer17
XM_011538731.2:c.857del	XP_011537033.1:p.Lys286SerfsTer17
XM_017019961.1:c.722del	XP_016875450.1:p.Lys241SerfsTer17
XM_017019962.2:c.-290del	XP_016875451.1:n.-290del
NM_024312.5:c.938del MANE Select	NP_077288.2:p.Lys313SerfsTer17