Canonical Allele Identifier: CA2620427922

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760045-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760046del , CM000674.2:g.101760046del	GRCh38
NC_000012.11:g.102153824del , CM000674.1:g.102153824del	GRCh37
NC_000012.10:g.100677955del	NCBI36
NG_021243.1:g.75822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3233del MANE Select	ENSP00000299314.7:p.Tyr1078SerfsTer13
ENST00000299314.11:c.3233del	ENSP00000299314.7:p.Tyr1078SerfsTer13
ENST00000549194.1:n.99del
ENST00000550718.1:c.45del
NM_024312.4:c.3233del	NP_077288.2:p.Tyr1078SerfsTer13
XM_006719593.2:c.3233del	XP_006719656.1:p.Tyr1078SerfsTer13
XM_011538731.1:c.3152del	XP_011537033.1:p.Tyr1051SerfsTer13
XM_006719593.3:c.3233del	XP_006719656.1:p.Tyr1078SerfsTer13
XM_011538731.2:c.3152del	XP_011537033.1:p.Tyr1051SerfsTer13
XM_017019961.1:c.3017del	XP_016875450.1:p.Tyr1006SerfsTer13
XM_017019962.2:c.2006del	XP_016875451.1:p.Tyr669SerfsTer13
NM_024312.5:c.3233del MANE Select	NP_077288.2:p.Tyr1078SerfsTer13