Canonical Allele Identifier: CA595757299
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1396105609
gnomAD v2: 10-115348414-TC-T
gnomAD v3: 10-113588655-TC-T
gnomAD v4: 10-113588655-TC-T
MyVariant Identifiers: chr10:g.115348415del (hg19) chr10:g.113588656del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588656del , CM000672.2:g.113588656del GRCh38
NC_000010.10:g.115348415del , CM000672.1:g.115348415del GRCh37
NC_000010.9:g.115338405del NCBI36
NG_008956.1:g.40638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*287del MANE Select ENSP00000277903.4:n.*287del
ENST00000351270.3:c.*287del ENSP00000277903.4:n.*287del
ENST00000542051.5:c.*287del ENSP00000443283.1:n.*287del
NM_001177660.1:c.*287del NP_001171131.1:n.*287del
NM_004132.3:c.*287del NP_004123.1:n.*287del
NM_001177660.2:c.*287del NP_001171131.1:n.*287del
NM_004132.4:c.*287del NP_004123.1:n.*287del
NM_004132.5:c.*287del MANE Select NP_004123.1:n.*287del
NM_001177660.3:c.*287del NP_001171131.1:n.*287del
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