Canonical Allele Identifier: CA224453124

Gene: ARAP1

Linked Data

• dbSNP Id: rs3029807
• gnomAD v2: 11-72433196-CAG-C
• gnomAD v3: 11-72722151-CAG-C
• gnomAD v4: 11-72722151-CAG-C
• COSMIC: COSN20108496 ; COSN20108497
• MyVariant Identifiers: chr11:g.72433201_72433202del (hg19) ; chr11:g.72433199_72433200del (hg19) ; chr11:g.72433197_72433198del (hg19) ; chr11:g.72722156_72722157del (hg38) ; chr11:g.72722152_72722153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72722171_72722172del , CM000673.2:g.72722171_72722172del	GRCh38
NC_000011.9:g.72433216_72433217del , CM000673.1:g.72433216_72433217del	GRCh37
NC_000011.8:g.72110864_72110865del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393609.8:c.509+4467_509+4468del MANE Select	ENSP00000377233.3:n.509+4467_509+4468del
ENST00000334211.12:c.-530_-529del	ENSP00000335506.8:n.-530_-529del
ENST00000359373.9:c.509+4467_509+4468del	ENSP00000352332.5:n.509+4467_509+4468del
ENST00000393609.7:c.509+4467_509+4468del	ENSP00000377233.3:n.509+4467_509+4468del
NM_001040118.2:c.509+4467_509+4468del	NP_001035207.1:n.509+4467_509+4468del
NM_001135190.1:c.-530_-529del	NP_001128662.1:n.-530_-529del
NM_015242.4:c.-530_-529del	NP_056057.2:n.-530_-529del
NM_001369489.1:c.-530_-529del	NP_001356418.1:n.-530_-529del
NR_161388.1:n.188_189del
NM_001040118.3:c.509+4467_509+4468del MANE Select	NP_001035207.1:n.509+4467_509+4468del
NM_001135190.2:c.-530_-529del	NP_001128662.1:n.-530_-529del
NM_015242.5:c.-530_-529del	NP_056057.2:n.-530_-529del