Canonical Allele Identifier: CA660073198
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1422342041
gnomAD v3: 10-113588616-GC-G
gnomAD v4: 10-113588616-GC-G
MyVariant Identifiers: chr10:g.115348376del (hg19) chr10:g.113588617del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588617del , CM000672.2:g.113588617del GRCh38
NC_000010.10:g.115348376del , CM000672.1:g.115348376del GRCh37
NC_000010.9:g.115338366del NCBI36
NG_008956.1:g.40599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*248del MANE Select ENSP00000277903.4:n.*248del
ENST00000351270.3:c.*248del ENSP00000277903.4:n.*248del
ENST00000542051.5:c.*248del ENSP00000443283.1:n.*248del
NM_001177660.1:c.*248del NP_001171131.1:n.*248del
NM_004132.3:c.*248del NP_004123.1:n.*248del
NM_001177660.2:c.*248del NP_001171131.1:n.*248del
NM_004132.4:c.*248del NP_004123.1:n.*248del
NM_004132.5:c.*248del MANE Select NP_004123.1:n.*248del
NM_001177660.3:c.*248del NP_001171131.1:n.*248del
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