Canonical Allele Identifier: CA2582801224

Gene: NACC1

Linked Data

• gnomAD v4: 19-13136159-G-GTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13136160_13136163dup , CM000681.2:g.13136160_13136163dup	GRCh38
NC_000019.9:g.13246974_13246977dup , CM000681.1:g.13246974_13246977dup	GRCh37
NC_000019.8:g.13107974_13107977dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586171.3:c.946+7_946+10dup	ENSP00000467120.2:n.946+7_946+10dup
ENST00000700232.1:c.946+7_946+10dup	ENSP00000514870.1:n.946+7_946+10dup
ENST00000292431.5:c.946+7_946+10dup MANE Select	ENSP00000292431.3:n.946+7_946+10dup
ENST00000292431.4:c.946+7_946+10dup	ENSP00000292431.3:n.946+7_946+10dup
NM_052876.3:c.946+7_946+10dup	NP_443108.1:n.946+7_946+10dup
XM_005259721.2:c.946+7_946+10dup	XP_005259778.1:n.946+7_946+10dup
XM_005259721.3:c.946+7_946+10dup	XP_005259778.1:n.946+7_946+10dup
NM_052876.4:c.946+7_946+10dup MANE Select	NP_443108.1:n.946+7_946+10dup