Canonical Allele Identifier: CA660073206
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1242353973
gnomAD v3: 10-113588645-A-AAATC
gnomAD v4: 10-113588645-A-AAATC
MyVariant Identifiers: chr10:g.115348404_115348405insAATC (hg19) chr10:g.113588645_113588646insAATC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588647_113588650dup , CM000672.2:g.113588647_113588650dup GRCh38
NC_000010.10:g.115348406_115348409dup , CM000672.1:g.115348406_115348409dup GRCh37
NC_000010.9:g.115338396_115338399dup NCBI36
NG_008956.1:g.40629_40632dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*278_*281dup MANE Select ENSP00000277903.4:n.*278_*281dup
ENST00000351270.3:c.*278_*281dup ENSP00000277903.4:n.*278_*281dup
ENST00000542051.5:c.*278_*281dup ENSP00000443283.1:n.*278_*281dup
NM_001177660.1:c.*278_*281dup NP_001171131.1:n.*278_*281dup
NM_004132.3:c.*278_*281dup NP_004123.1:n.*278_*281dup
NM_001177660.2:c.*278_*281dup NP_001171131.1:n.*278_*281dup
NM_004132.4:c.*278_*281dup NP_004123.1:n.*278_*281dup
NM_004132.5:c.*278_*281dup MANE Select NP_004123.1:n.*278_*281dup
NM_001177660.3:c.*278_*281dup NP_001171131.1:n.*278_*281dup
Search 100 bp 5'
Search 100 bp 3'