Canonical Allele Identifier: CA2601831858

Gene: GNPTAB

Linked Data

• gnomAD v3: 12-101770745-G-GTA
• gnomAD v4: 12-101770745-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770753_101770754dup , CM000674.2:g.101770753_101770754dup	GRCh38
NC_000012.11:g.102164531_102164532dup , CM000674.1:g.102164531_102164532dup	GRCh37
NC_000012.10:g.100688662_100688663dup	NCBI36
NG_021243.1:g.65121_65122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.934-162_934-161dup MANE Select	ENSP00000299314.7:n.934-162_934-161dup
ENST00000299314.11:c.934-162_934-161dup	ENSP00000299314.7:n.934-162_934-161dup
ENST00000549940.5:c.934-162_934-161dup	ENSP00000449150.1:n.934-162_934-161dup
NM_024312.4:c.934-162_934-161dup	NP_077288.2:n.934-162_934-161dup
XM_006719593.2:c.934-162_934-161dup	XP_006719656.1:n.934-162_934-161dup
XM_011538731.1:c.853-162_853-161dup	XP_011537033.1:n.853-162_853-161dup
XM_006719593.3:c.934-162_934-161dup	XP_006719656.1:n.934-162_934-161dup
XM_011538731.2:c.853-162_853-161dup	XP_011537033.1:n.853-162_853-161dup
XM_017019961.1:c.718-162_718-161dup	XP_016875450.1:n.718-162_718-161dup
XM_017019962.2:c.-417-39_-417-38dup	XP_016875451.1:n.-417-39_-417-38dup
NM_024312.5:c.934-162_934-161dup MANE Select	NP_077288.2:n.934-162_934-161dup