Canonical Allele Identifier: CA224453122
Gene: ARAP1 HGNC NCBI

Linked Data

dbSNP Id: rs3029807
gnomAD v2: 11-72433196-C-CAG
gnomAD v3: 11-72722151-C-CAG
gnomAD v4: 11-72722151-C-CAG
MyVariant Identifiers: chr11:g.72433202_72433203insAG (hg19) chr11:g.72433200_72433201insAG (hg19) chr11:g.72433196_72433197insAG (hg19) chr11:g.72722157_72722158insAG (hg38) chr11:g.72722151_72722152insAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72722171_72722172dup , CM000673.2:g.72722171_72722172dup GRCh38
NC_000011.9:g.72433216_72433217dup , CM000673.1:g.72433216_72433217dup GRCh37
NC_000011.8:g.72110864_72110865dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000393609.8:c.509+4467_509+4468dup MANE Select ENSP00000377233.3:n.509+4467_509+4468dup
ENST00000334211.12:c.-530_-529dup ENSP00000335506.8:n.-530_-529dup
ENST00000359373.9:c.509+4467_509+4468dup ENSP00000352332.5:n.509+4467_509+4468dup
ENST00000393609.7:c.509+4467_509+4468dup ENSP00000377233.3:n.509+4467_509+4468dup
NM_001040118.2:c.509+4467_509+4468dup NP_001035207.1:n.509+4467_509+4468dup
NM_001135190.1:c.-530_-529dup NP_001128662.1:n.-530_-529dup
NM_015242.4:c.-530_-529dup NP_056057.2:n.-530_-529dup
NM_001369489.1:c.-530_-529dup NP_001356418.1:n.-530_-529dup
NR_161388.1:n.188_189dup
NM_001040118.3:c.509+4467_509+4468dup MANE Select NP_001035207.1:n.509+4467_509+4468dup
NM_001135190.2:c.-530_-529dup NP_001128662.1:n.-530_-529dup
NM_015242.5:c.-530_-529dup NP_056057.2:n.-530_-529dup
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