Canonical Allele Identifier: CA528319126

Gene: INAVA

Linked Data

• dbSNP Id: rs1218370663
• gnomAD v2: 1-200881684-A-AT
• gnomAD v3: 1-200912556-A-AT
• gnomAD v4: 1-200912556-A-AT
• MyVariant Identifiers: chr1:g.200881684_200881685insT (hg19) ; chr1:g.200912556_200912557insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200912560dup , CM000663.2:g.200912560dup	GRCh38
NC_000001.10:g.200881688dup , CM000663.1:g.200881688dup	GRCh37
NC_000001.9:g.199148311dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413687.3:c.1644+423dup MANE Select	ENSP00000392105.2:n.1644+423dup
ENST00000367342.8:c.1899+423dup	ENSP00000356311.4:n.1899+423dup
ENST00000413687.2:c.1644+423dup	ENSP00000392105.2:n.1644+423dup
ENST00000465162.1:n.179+423dup
NM_001142569.2:c.1644+423dup	NP_001136041.1:n.1644+423dup
NM_018265.3:c.1941+423dup	NP_060735.3:n.1941+423dup
XM_011509754.1:c.1644+423dup	XP_011508056.1:n.1644+423dup
XM_011509755.1:c.1644+423dup	XP_011508057.1:n.1644+423dup
XM_011509754.2:c.1644+423dup	XP_011508056.1:n.1644+423dup
NM_001142569.3:c.1644+423dup MANE Select	NP_001136041.1:n.1644+423dup
NM_001367289.1:c.1584+483dup	NP_001354218.1:n.1584+483dup
NM_001367290.1:c.1107+423dup	NP_001354219.1:n.1107+423dup
NM_018265.4:c.1899+423dup	NP_060735.4:n.1899+423dup