Canonical Allele Identifier: CA2695217190

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753488_101753489dup , CM000674.2:g.101753488_101753489dup	GRCh38
NC_000012.11:g.102147266_102147267dup , CM000674.1:g.102147266_102147267dup	GRCh37
NC_000012.10:g.100671397_100671398dup	NCBI36
NG_021243.1:g.82380_82381dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3486_3487dup MANE Select	ENSP00000299314.7:p.Thr1163ArgfsTer3
ENST00000299314.11:c.3486_3487dup	ENSP00000299314.7:p.Thr1163ArgfsTer3
ENST00000549738.5:c.384_385dup	ENSP00000450161.1:n.384_385dup
NM_024312.4:c.3486_3487dup	NP_077288.2:p.Thr1163ArgfsTer3
XM_011538731.1:c.3405_3406dup	XP_011537033.1:p.Thr1136ArgfsTer3
XM_011538731.2:c.3405_3406dup	XP_011537033.1:p.Thr1136ArgfsTer3
XM_017019961.1:c.3270_3271dup	XP_016875450.1:p.Thr1091ArgfsTer3
XM_017019962.2:c.2259_2260dup	XP_016875451.1:p.Thr754ArgfsTer3
NM_024312.5:c.3486_3487dup MANE Select	NP_077288.2:p.Thr1163ArgfsTer3