Canonical Allele Identifier: CA2620446234

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101786253-C-CTTGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786256_101786261dup , CM000674.2:g.101786256_101786261dup	GRCh38
NC_000012.11:g.102180034_102180039dup , CM000674.1:g.102180034_102180039dup	GRCh37
NC_000012.10:g.100704165_100704170dup	NCBI36
NG_021243.1:g.49609_49614dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-42_366-37dup MANE Select	ENSP00000299314.7:n.366-42_366-37dup
ENST00000299314.11:c.366-42_366-37dup	ENSP00000299314.7:n.366-42_366-37dup
ENST00000549940.5:c.366-42_366-37dup	ENSP00000449150.1:n.366-42_366-37dup
ENST00000550352.1:n.160-42_160-37dup
NM_024312.4:c.366-42_366-37dup	NP_077288.2:n.366-42_366-37dup
XM_006719593.2:c.366-42_366-37dup	XP_006719656.1:n.366-42_366-37dup
XM_011538731.1:c.285-42_285-37dup	XP_011537033.1:n.285-42_285-37dup
XM_006719593.3:c.366-42_366-37dup	XP_006719656.1:n.366-42_366-37dup
XM_011538731.2:c.285-42_285-37dup	XP_011537033.1:n.285-42_285-37dup
XM_017019961.1:c.150-42_150-37dup	XP_016875450.1:n.150-42_150-37dup
XM_017019962.2:c.-985-42_-985-37dup	XP_016875451.1:n.-985-42_-985-37dup
NM_024312.5:c.366-42_366-37dup MANE Select	NP_077288.2:n.366-42_366-37dup