Canonical Allele Identifier: CA679988760

Gene: ARAP1

Linked Data

• dbSNP Id: rs1417481365
• gnomAD v3: 11-72712492-CCA-C
• gnomAD v4: 11-72712492-CCA-C
• MyVariant Identifiers: chr11:g.72423538_72423539del (hg19) ; chr11:g.72712493_72712494del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712493_72712494del , CM000673.2:g.72712493_72712494del	GRCh38
NC_000011.9:g.72423538_72423539del , CM000673.1:g.72423538_72423539del	GRCh37
NC_000011.8:g.72101186_72101187del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.822_823del MANE Select	ENSP00000377233.3:p.Asp276ArgfsTer5
ENST00000334211.12:c.87_88del	ENSP00000335506.8:p.Asp31ArgfsTer5
ENST00000359373.9:c.822_823del	ENSP00000352332.5:p.Asp276ArgfsTer5
ENST00000393605.7:c.102_103del	ENSP00000377230.3:p.Asp36ArgfsTer5
ENST00000393609.7:c.822_823del	ENSP00000377233.3:p.Asp276ArgfsTer5
ENST00000426523.5:c.87_88del	ENSP00000392264.1:p.Asp31ArgfsTer5
ENST00000429686.5:c.87_88del	ENSP00000403127.1:p.Asp31ArgfsTer5
ENST00000465814.5:n.1159_1160del
NM_001040118.2:c.822_823del	NP_001035207.1:p.Asp276ArgfsTer5
NM_001135190.1:c.87_88del	NP_001128662.1:p.Asp31ArgfsTer5
NM_015242.4:c.87_88del	NP_056057.2:p.Asp31ArgfsTer5
NM_001369489.1:c.87_88del	NP_001356418.1:p.Asp31ArgfsTer5
NR_161388.1:n.804_805del
NM_001040118.3:c.822_823del MANE Select	NP_001035207.1:p.Asp276ArgfsTer5
NM_001135190.2:c.87_88del	NP_001128662.1:p.Asp31ArgfsTer5
NM_015242.5:c.87_88del	NP_056057.2:p.Asp31ArgfsTer5