Canonical Allele Identifier: CA2058950514

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753335_101753336delinsAC , CM000674.2:g.101753335_101753336delinsAC	GRCh38
NC_000012.11:g.102147113_102147114delinsAC , CM000674.1:g.102147113_102147114delinsAC	GRCh37
NC_000012.10:g.100671244_100671245delinsAC	NCBI36
NG_021243.1:g.82532_82533delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3602+36_3602+37delinsGT MANE Select	ENSP00000299314.7:n.3602+36_3602+37delins...
ENST00000299314.11:c.3602+36_3602+37delinsGT	ENSP00000299314.7:n.3602+36_3602+37delins...
ENST00000549738.5:c.500+36_500+37delinsGT	ENSP00000450161.1:n.500+36_500+37delinsGT...
NM_024312.4:c.3602+36_3602+37delinsGT	NP_077288.2:n.3602+36_3602+37delinsGT
XM_011538731.1:c.3521+36_3521+37delinsGT	XP_011537033.1:n.3521+36_3521+37delinsGT
XM_011538731.2:c.3521+36_3521+37delinsGT	XP_011537033.1:n.3521+36_3521+37delinsGT
XM_017019961.1:c.3386+36_3386+37delinsGT	XP_016875450.1:n.3386+36_3386+37delinsGT
XM_017019962.2:c.2375+36_2375+37delinsGT	XP_016875451.1:n.2375+36_2375+37delinsGT
NM_024312.5:c.3602+36_3602+37delinsGT MANE Select	NP_077288.2:n.3602+36_3602+37delinsGT