Canonical Allele Identifier: CA1937429275
Gene: HABP2 HGNC NCBI

Linked Data

dbSNP Id: rs1845713061
gnomAD v4: 10-113588446-ACCTCCAGAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113588454_113588462del , CM000672.2:g.113588454_113588462del GRCh38
NC_000010.10:g.115348213_115348221del , CM000672.1:g.115348213_115348221del GRCh37
NC_000010.9:g.115338203_115338211del NCBI36
NG_008956.1:g.40436_40444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000351270.4:c.*85_*93del MANE Select ENSP00000277903.4:n.*85_*93del
ENST00000351270.3:c.*85_*93del ENSP00000277903.4:n.*85_*93del
ENST00000542051.5:c.*85_*93del ENSP00000443283.1:n.*85_*93del
NM_001177660.1:c.*85_*93del NP_001171131.1:n.*85_*93del
NM_004132.3:c.*85_*93del NP_004123.1:n.*85_*93del
NM_001177660.2:c.*85_*93del NP_001171131.1:n.*85_*93del
NM_004132.4:c.*85_*93del NP_004123.1:n.*85_*93del
NM_004132.5:c.*85_*93del MANE Select NP_004123.1:n.*85_*93del
NM_001177660.3:c.*85_*93del NP_001171131.1:n.*85_*93del
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