Canonical Allele Identifier: CA600098544

Gene: ARAP1

Linked Data

• dbSNP Id: rs1239523161
• gnomAD v2: 11-72432722-GAGA-G
• gnomAD v3: 11-72721677-GAGA-G
• gnomAD v4: 11-72721677-GAGA-G
• MyVariant Identifiers: chr11:g.72432723_72432725del (hg19) ; chr11:g.72721678_72721680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72721683_72721685del , CM000673.2:g.72721683_72721685del	GRCh38
NC_000011.9:g.72432728_72432730del , CM000673.1:g.72432728_72432730del	GRCh37
NC_000011.8:g.72110376_72110378del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.509+4940_509+4942del MANE Select	ENSP00000377233.3:n.509+4940_509+4942del
ENST00000334211.12:c.-227+170_-227+172del	ENSP00000335506.8:n.-227+170_-227+172del
ENST00000359373.9:c.509+4940_509+4942del	ENSP00000352332.5:n.509+4940_509+4942del
ENST00000393609.7:c.509+4940_509+4942del	ENSP00000377233.3:n.509+4940_509+4942del
ENST00000426523.5:c.-227+170_-227+172del	ENSP00000392264.1:n.-227+170_-227+172del
ENST00000429686.5:c.-227+170_-227+172del	ENSP00000403127.1:n.-227+170_-227+172del
ENST00000465814.5:n.239+170_239+172del
NM_001040118.2:c.509+4940_509+4942del	NP_001035207.1:n.509+4940_509+4942del
NM_001135190.1:c.-227+170_-227+172del	NP_001128662.1:n.-227+170_-227+172del
NM_015242.4:c.-227+170_-227+172del	NP_056057.2:n.-227+170_-227+172del
NM_001369489.1:c.-227+170_-227+172del	NP_001356418.1:n.-227+170_-227+172del
NR_161388.1:n.491+170_491+172del
NM_001040118.3:c.509+4940_509+4942del MANE Select	NP_001035207.1:n.509+4940_509+4942del
NM_001135190.2:c.-227+170_-227+172del	NP_001128662.1:n.-227+170_-227+172del
NM_015242.5:c.-227+170_-227+172del	NP_056057.2:n.-227+170_-227+172del