Canonical Allele Identifier: CA2620450348

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101830716-C-CGCCGCCGCCGCCGCCGCCGCCTCAGCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830723_101830750dup , CM000674.2:g.101830723_101830750dup	GRCh38
NC_000012.11:g.102224501_102224528dup , CM000674.1:g.102224501_102224528dup	GRCh37
NC_000012.10:g.100748632_100748659dup	NCBI36
NG_021243.1:g.5124_5151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-69_-42dup MANE Select	ENSP00000299314.7:n.-69_-42dup
ENST00000299314.11:c.-69_-42dup	ENSP00000299314.7:n.-69_-42dup
ENST00000392919.4:c.-69_-42dup	ENSP00000376651.4:n.-69_-42dup
ENST00000549940.5:c.-69_-42dup	ENSP00000449150.1:n.-69_-42dup
NM_024312.4:c.-69_-42dup	NP_077288.2:n.-69_-42dup
XM_006719593.2:c.-69_-42dup	XP_006719656.1:n.-69_-42dup
XM_006719593.3:c.-69_-42dup	XP_006719656.1:n.-69_-42dup
XM_017019961.1:c.-218_-191dup	XP_016875450.1:n.-218_-191dup
XM_017019962.2:c.-1419_-1392dup	XP_016875451.1:n.-1419_-1392dup
NM_024312.5:c.-69_-42dup MANE Select	NP_077288.2:n.-69_-42dup