Canonical Allele Identifier: CA2620428020

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760121-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760125_101760126dup , CM000674.2:g.101760125_101760126dup	GRCh38
NC_000012.11:g.102153903_102153904dup , CM000674.1:g.102153903_102153904dup	GRCh37
NC_000012.10:g.100678034_100678035dup	NCBI36
NG_021243.1:g.75745_75746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3156_3157dup MANE Select	ENSP00000299314.7:p.Met1053ThrfsTer3
ENST00000299314.11:c.3156_3157dup	ENSP00000299314.7:p.Met1053ThrfsTer3
ENST00000549194.1:n.22_23dup
NM_024312.4:c.3156_3157dup	NP_077288.2:p.Met1053ThrfsTer3
XM_006719593.2:c.3156_3157dup	XP_006719656.1:p.Met1053ThrfsTer3
XM_011538731.1:c.3075_3076dup	XP_011537033.1:p.Met1026ThrfsTer3
XM_006719593.3:c.3156_3157dup	XP_006719656.1:p.Met1053ThrfsTer3
XM_011538731.2:c.3075_3076dup	XP_011537033.1:p.Met1026ThrfsTer3
XM_017019961.1:c.2940_2941dup	XP_016875450.1:p.Met981ThrfsTer3
XM_017019962.2:c.1929_1930dup	XP_016875451.1:p.Met644ThrfsTer3
NM_024312.5:c.3156_3157dup MANE Select	NP_077288.2:p.Met1053ThrfsTer3