Canonical Allele Identifier: CA2058964747

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785928_101785944delinsGAATCATTTCTATTCCA , CM000674.2:g.101785928_101785944delinsGAATCATTTCTATTCCA	GRCh38
NC_000012.11:g.102179706_102179722delinsGAATCATTTCTATTCCA , CM000674.1:g.102179706_102179722delinsGAATCATTTCTATTCCA	GRCh37
NC_000012.10:g.100703837_100703853delinsGAATCATTTCTATTCCA	NCBI36
NG_021243.1:g.49924_49940delinsTGGAATAGAAATGATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+68_571+84delinsTGGAATAGAAATGATTC MANE Select	ENSP00000299314.7:n.571+68_571+84delinsTGGAATAGAAATGATTC
ENST00000299314.11:c.571+68_571+84delinsTGGAATAGAAATGATTC	ENSP00000299314.7:n.571+68_571+84delinsTGGAATAGAAATGATTC
ENST00000549940.5:c.571+68_571+84delinsTGGAATAGAAATGATTC	ENSP00000449150.1:n.571+68_571+84delinsTGGAATAGAAATGATTC
ENST00000550352.1:n.433_449delinsTGGAATAGAAATGATTC
ENST00000552681.1:c.205+68_205+84delinsTGGAATAGAAATGATTC	ENSP00000449217.1:n.205+68_205+84delinsTGGAATAGAAATGATTC
NM_024312.4:c.571+68_571+84delinsTGGAATAGAAATGATTC	NP_077288.2:n.571+68_571+84delinsTGGAATAGAAATGATTC
XM_006719593.2:c.571+68_571+84delinsTGGAATAGAAATGATTC	XP_006719656.1:n.571+68_571+84delinsTGGAATAGAAATGATTC
XM_011538731.1:c.490+68_490+84delinsTGGAATAGAAATGATTC	XP_011537033.1:n.490+68_490+84delinsTGGAATAGAAATGATTC
XM_006719593.3:c.571+68_571+84delinsTGGAATAGAAATGATTC	XP_006719656.1:n.571+68_571+84delinsTGGAATAGAAATGATTC
XM_011538731.2:c.490+68_490+84delinsTGGAATAGAAATGATTC	XP_011537033.1:n.490+68_490+84delinsTGGAATAGAAATGATTC
XM_017019961.1:c.355+68_355+84delinsTGGAATAGAAATGATTC	XP_016875450.1:n.355+68_355+84delinsTGGAATAGAAATGATTC
XM_017019962.2:c.-780+68_-780+84delinsTGGAATAGAAATGATTC	XP_016875451.1:n.-780+68_-780+84delinsTGGAATAGAAATGATTC
NM_024312.5:c.571+68_571+84delinsTGGAATAGAAATGATTC MANE Select	NP_077288.2:n.571+68_571+84delinsTGGAATAGAAATGATTC