Canonical Allele Identifier: CA2695217198

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761222dup , CM000674.2:g.101761222dup	GRCh38
NC_000012.11:g.102155000dup , CM000674.1:g.102155000dup	GRCh37
NC_000012.10:g.100679131dup	NCBI36
NG_021243.1:g.74648dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3042dup MANE Select	ENSP00000299314.7:p.Asp1015Ter
ENST00000299314.11:c.3042dup	ENSP00000299314.7:p.Asp1015Ter
NM_024312.4:c.3042dup	NP_077288.2:p.Asp1015Ter
XM_006719593.2:c.3042dup	XP_006719656.1:p.Asp1015Ter
XM_011538731.1:c.2961dup	XP_011537033.1:p.Asp988Ter
XM_006719593.3:c.3042dup	XP_006719656.1:p.Asp1015Ter
XM_011538731.2:c.2961dup	XP_011537033.1:p.Asp988Ter
XM_017019961.1:c.2826dup	XP_016875450.1:p.Asp943Ter
XM_017019962.2:c.1815dup	XP_016875451.1:p.Asp606Ter
NM_024312.5:c.3042dup MANE Select	NP_077288.2:p.Asp1015Ter