Canonical Allele Identifier: CA660072758

Gene: HABP2

Linked Data

• dbSNP Id: rs1464352298
• gnomAD v3: 10-113588292-AGGCCAGGGGTC-A
• gnomAD v4: 10-113588292-AGGCCAGGGGTC-A
• MyVariant Identifiers: chr10:g.115348052_115348062del (hg19) ; chr10:g.113588293_113588303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113588293_113588303del , CM000672.2:g.113588293_113588303del	GRCh38
NC_000010.10:g.115348052_115348062del , CM000672.1:g.115348052_115348062del	GRCh37
NC_000010.9:g.115338042_115338052del	NCBI36
NG_008956.1:g.40275_40285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000351270.4:c.1607_1617del MANE Select	ENSP00000277903.4:p.Arg536IlefsTer18
ENST00000351270.3:c.1607_1617del	ENSP00000277903.4:p.Arg536IlefsTer18
ENST00000542051.5:c.1529_1539del	ENSP00000443283.1:p.Arg510IlefsTer18
NM_001177660.1:c.1529_1539del	NP_001171131.1:p.Arg510IlefsTer18
NM_004132.3:c.1607_1617del	NP_004123.1:p.Arg536IlefsTer18
NM_001177660.2:c.1529_1539del	NP_001171131.1:p.Arg510IlefsTer18
NM_004132.4:c.1607_1617del	NP_004123.1:p.Arg536IlefsTer18
NM_004132.5:c.1607_1617del MANE Select	NP_004123.1:p.Arg536IlefsTer18
NM_001177660.3:c.1529_1539del	NP_001171131.1:p.Arg510IlefsTer18