Canonical Allele Identifier: CA2058954262

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952969676

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760095_101760096insCTCTATGGTTTTAT , CM000674.2:g.101760095_101760096insCTCTATGGTTTTAT	GRCh38
NC_000012.11:g.102153873_102153874insCTCTATGGTTTTAT , CM000674.1:g.102153873_102153874insCTCTATGGTTTTAT	GRCh37
NC_000012.10:g.100678004_100678005insCTCTATGGTTTTAT	NCBI36
NG_021243.1:g.75772_75773insATAAAACCATAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3183_3184insATAAAACCATAGAG MANE Select	ENSP00000299314.7:p.Pro1062IlefsTer4
ENST00000299314.11:c.3183_3184insATAAAACCATAGAG	ENSP00000299314.7:p.Pro1062IlefsTer4
ENST00000549194.1:n.49_50insATAAAACCATAGAG
NM_024312.4:c.3183_3184insATAAAACCATAGAG	NP_077288.2:p.Pro1062IlefsTer4
XM_006719593.2:c.3183_3184insATAAAACCATAGAG	XP_006719656.1:p.Pro1062IlefsTer4
XM_011538731.1:c.3102_3103insATAAAACCATAGAG	XP_011537033.1:p.Pro1035IlefsTer4
XM_006719593.3:c.3183_3184insATAAAACCATAGAG	XP_006719656.1:p.Pro1062IlefsTer4
XM_011538731.2:c.3102_3103insATAAAACCATAGAG	XP_011537033.1:p.Pro1035IlefsTer4
XM_017019961.1:c.2967_2968insATAAAACCATAGAG	XP_016875450.1:p.Pro990IlefsTer4
XM_017019962.2:c.1956_1957insATAAAACCATAGAG	XP_016875451.1:p.Pro653IlefsTer4
NM_024312.5:c.3183_3184insATAAAACCATAGAG MANE Select	NP_077288.2:p.Pro1062IlefsTer4