Canonical Allele Identifier: CA528536074

Gene: INAVA

Linked Data

• dbSNP Id: rs1354927165
• gnomAD v2: 1-200881510-TGGA-T
• gnomAD v3: 1-200912382-TGGA-T
• gnomAD v4: 1-200912382-TGGA-T
• MyVariant Identifiers: chr1:g.200881511_200881513del (hg19) ; chr1:g.200912383_200912385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200912384_200912386del , CM000663.2:g.200912384_200912386del	GRCh38
NC_000001.10:g.200881512_200881514del , CM000663.1:g.200881512_200881514del	GRCh37
NC_000001.9:g.199148135_199148137del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413687.3:c.1644+247_1644+249del MANE Select	ENSP00000392105.2:n.1644+247_1644+249del
ENST00000367342.8:c.1899+247_1899+249del	ENSP00000356311.4:n.1899+247_1899+249del
ENST00000413687.2:c.1644+247_1644+249del	ENSP00000392105.2:n.1644+247_1644+249del
ENST00000465162.1:n.179+247_179+249del
NM_001142569.2:c.1644+247_1644+249del	NP_001136041.1:n.1644+247_1644+249del
NM_018265.3:c.1941+247_1941+249del	NP_060735.3:n.1941+247_1941+249del
XM_011509754.1:c.1644+247_1644+249del	XP_011508056.1:n.1644+247_1644+249del
XM_011509755.1:c.1644+247_1644+249del	XP_011508057.1:n.1644+247_1644+249del
XM_011509754.2:c.1644+247_1644+249del	XP_011508056.1:n.1644+247_1644+249del
NM_001142569.3:c.1644+247_1644+249del MANE Select	NP_001136041.1:n.1644+247_1644+249del
NM_001367289.1:c.1584+307_1584+309del	NP_001354218.1:n.1584+307_1584+309del
NM_001367290.1:c.1107+247_1107+249del	NP_001354219.1:n.1107+247_1107+249del
NM_018265.4:c.1899+247_1899+249del	NP_060735.4:n.1899+247_1899+249del