Canonical Allele Identifier: CA2695217202

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761661dup , CM000674.2:g.101761661dup	GRCh38
NC_000012.11:g.102155439dup , CM000674.1:g.102155439dup	GRCh37
NC_000012.10:g.100679570dup	NCBI36
NG_021243.1:g.74210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2821dup MANE Select	ENSP00000299314.7:p.Ile941AsnfsTer4
ENST00000299314.11:c.2821dup	ENSP00000299314.7:p.Ile941AsnfsTer4
NM_024312.4:c.2821dup	NP_077288.2:p.Ile941AsnfsTer4
XM_006719593.2:c.2821dup	XP_006719656.1:p.Ile941AsnfsTer4
XM_011538731.1:c.2740dup	XP_011537033.1:p.Ile914AsnfsTer4
XM_006719593.3:c.2821dup	XP_006719656.1:p.Ile941AsnfsTer4
XM_011538731.2:c.2740dup	XP_011537033.1:p.Ile914AsnfsTer4
XM_017019961.1:c.2605dup	XP_016875450.1:p.Ile869AsnfsTer4
XM_017019962.2:c.1594dup	XP_016875451.1:p.Ile532AsnfsTer4
NM_024312.5:c.2821dup MANE Select	NP_077288.2:p.Ile941AsnfsTer4