Canonical Allele Identifier: CA224453183

Gene: ARAP1

Linked Data

• dbSNP Id: rs1049127431
• gnomAD v2: 11-72433364-AAC-A
• gnomAD v3: 11-72722319-AAC-A
• gnomAD v4: 11-72722319-AAC-A
• MyVariant Identifiers: chr11:g.72433365_72433366del (hg19) ; chr11:g.72722320_72722321del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72722328_72722329del , CM000673.2:g.72722328_72722329del	GRCh38
NC_000011.9:g.72433373_72433374del , CM000673.1:g.72433373_72433374del	GRCh37
NC_000011.8:g.72111021_72111022del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.509+4299_509+4300del MANE Select	ENSP00000377233.3:n.509+4299_509+4300del
ENST00000334211.12:c.-698_-697del	ENSP00000335506.8:n.-698_-697del
ENST00000359373.9:c.509+4299_509+4300del	ENSP00000352332.5:n.509+4299_509+4300del
ENST00000393609.7:c.509+4299_509+4300del	ENSP00000377233.3:n.509+4299_509+4300del
NM_001040118.2:c.509+4299_509+4300del	NP_001035207.1:n.509+4299_509+4300del
NM_001135190.1:c.-698_-697del	NP_001128662.1:n.-698_-697del
NM_015242.4:c.-698_-697del	NP_056057.2:n.-698_-697del
NM_001369489.1:c.-698_-697del	NP_001356418.1:n.-698_-697del
NR_161388.1:n.20_21del
NM_001040118.3:c.509+4299_509+4300del MANE Select	NP_001035207.1:n.509+4299_509+4300del
NM_001135190.2:c.-698_-697del	NP_001128662.1:n.-698_-697del
NM_015242.5:c.-698_-697del	NP_056057.2:n.-698_-697del