Canonical Allele Identifier: CA730035370

Gene: INAVA

Linked Data

• dbSNP Id: rs1348030335
• gnomAD v3: 1-200912410-CTT-C
• gnomAD v4: 1-200912410-CTT-C
• MyVariant Identifiers: chr1:g.200881539_200881540del (hg19) ; chr1:g.200912411_200912412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200912414_200912415del , CM000663.2:g.200912414_200912415del	GRCh38
NC_000001.10:g.200881542_200881543del , CM000663.1:g.200881542_200881543del	GRCh37
NC_000001.9:g.199148165_199148166del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413687.3:c.1644+277_1644+278del MANE Select	ENSP00000392105.2:n.1644+277_1644+278del
ENST00000367342.8:c.1899+277_1899+278del	ENSP00000356311.4:n.1899+277_1899+278del
ENST00000413687.2:c.1644+277_1644+278del	ENSP00000392105.2:n.1644+277_1644+278del
ENST00000465162.1:n.179+277_179+278del
NM_001142569.2:c.1644+277_1644+278del	NP_001136041.1:n.1644+277_1644+278del
NM_018265.3:c.1941+277_1941+278del	NP_060735.3:n.1941+277_1941+278del
XM_011509754.1:c.1644+277_1644+278del	XP_011508056.1:n.1644+277_1644+278del
XM_011509755.1:c.1644+277_1644+278del	XP_011508057.1:n.1644+277_1644+278del
XM_011509754.2:c.1644+277_1644+278del	XP_011508056.1:n.1644+277_1644+278del
NM_001142569.3:c.1644+277_1644+278del MANE Select	NP_001136041.1:n.1644+277_1644+278del
NM_001367289.1:c.1584+337_1584+338del	NP_001354218.1:n.1584+337_1584+338del
NM_001367290.1:c.1107+277_1107+278del	NP_001354219.1:n.1107+277_1107+278del
NM_018265.4:c.1899+277_1899+278del	NP_060735.4:n.1899+277_1899+278del