Canonical Allele Identifier: CA2058958194

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770976_101770977delinsAG , CM000674.2:g.101770976_101770977delinsAG	GRCh38
NC_000012.11:g.102164754_102164755delinsAG , CM000674.1:g.102164754_102164755delinsAG	GRCh37
NC_000012.10:g.100688885_100688886delinsAG	NCBI36
NG_021243.1:g.64891_64892delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.933+19_933+20delinsCT MANE Select	ENSP00000299314.7:n.933+19_933+20delinsCT
ENST00000299314.11:c.933+19_933+20delinsCT	ENSP00000299314.7:n.933+19_933+20delinsCT
ENST00000549940.5:c.933+19_933+20delinsCT	ENSP00000449150.1:n.933+19_933+20delinsCT
NM_024312.4:c.933+19_933+20delinsCT	NP_077288.2:n.933+19_933+20delinsCT
XM_006719593.2:c.933+19_933+20delinsCT	XP_006719656.1:n.933+19_933+20delinsCT
XM_011538731.1:c.852+19_852+20delinsCT	XP_011537033.1:n.852+19_852+20delinsCT
XM_006719593.3:c.933+19_933+20delinsCT	XP_006719656.1:n.933+19_933+20delinsCT
XM_011538731.2:c.852+19_852+20delinsCT	XP_011537033.1:n.852+19_852+20delinsCT
XM_017019961.1:c.717+19_717+20delinsCT	XP_016875450.1:n.717+19_717+20delinsCT
XM_017019962.2:c.-418+19_-418+20delinsCT	XP_016875451.1:n.-418+19_-418+20delinsCT
NM_024312.5:c.933+19_933+20delinsCT MANE Select	NP_077288.2:n.933+19_933+20delinsCT