Canonical Allele Identifier: CA600098585

Gene: ARAP1

Linked Data

• dbSNP Id: rs1170571488
• gnomAD v2: 11-72433218-AAGAC-A
• gnomAD v3: 11-72722173-AAGAC-A
• gnomAD v4: 11-72722173-AAGAC-A
• MyVariant Identifiers: chr11:g.72433219_72433222del (hg19) ; chr11:g.72722174_72722177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72722177_72722180del , CM000673.2:g.72722177_72722180del	GRCh38
NC_000011.9:g.72433222_72433225del , CM000673.1:g.72433222_72433225del	GRCh37
NC_000011.8:g.72110870_72110873del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.509+4443_509+4446del MANE Select	ENSP00000377233.3:n.509+4443_509+4446del
ENST00000334211.12:c.-554_-551del	ENSP00000335506.8:n.-554_-551del
ENST00000359373.9:c.509+4443_509+4446del	ENSP00000352332.5:n.509+4443_509+4446del
ENST00000393609.7:c.509+4443_509+4446del	ENSP00000377233.3:n.509+4443_509+4446del
NM_001040118.2:c.509+4443_509+4446del	NP_001035207.1:n.509+4443_509+4446del
NM_001135190.1:c.-554_-551del	NP_001128662.1:n.-554_-551del
NM_015242.4:c.-554_-551del	NP_056057.2:n.-554_-551del
NM_001369489.1:c.-554_-551del	NP_001356418.1:n.-554_-551del
NR_161388.1:n.164_167del
NM_001040118.3:c.509+4443_509+4446del MANE Select	NP_001035207.1:n.509+4443_509+4446del
NM_001135190.2:c.-554_-551del	NP_001128662.1:n.-554_-551del
NM_015242.5:c.-554_-551del	NP_056057.2:n.-554_-551del