Canonical Allele Identifier: CA2620452059

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101770474-CAATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770477_101770480del , CM000674.2:g.101770477_101770480del	GRCh38
NC_000012.11:g.102164255_102164258del , CM000674.1:g.102164255_102164258del	GRCh37
NC_000012.10:g.100688386_100688389del	NCBI36
NG_021243.1:g.65390_65393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1041_1044del MANE Select	ENSP00000299314.7:p.Phe347LeufsTer11
ENST00000299314.11:c.1041_1044del	ENSP00000299314.7:p.Phe347LeufsTer11
ENST00000549940.5:c.1041_1044del	ENSP00000449150.1:p.Phe347LeufsTer11
NM_024312.4:c.1041_1044del	NP_077288.2:p.Phe347LeufsTer11
XM_006719593.2:c.1041_1044del	XP_006719656.1:p.Phe347LeufsTer11
XM_011538731.1:c.960_963del	XP_011537033.1:p.Phe320LeufsTer11
XM_006719593.3:c.1041_1044del	XP_006719656.1:p.Phe347LeufsTer11
XM_011538731.2:c.960_963del	XP_011537033.1:p.Phe320LeufsTer11
XM_017019961.1:c.825_828del	XP_016875450.1:p.Phe275LeufsTer11
XM_017019962.2:c.-187_-184del	XP_016875451.1:n.-187_-184del
NM_024312.5:c.1041_1044del MANE Select	NP_077288.2:p.Phe347LeufsTer11