Canonical Allele Identifier: CA224453062

Gene: ARAP1

Linked Data

• dbSNP Id: rs370438472
• gnomAD v2: 11-72432952-CTGCGTA-C
• gnomAD v3: 11-72721907-CTGCGTA-C
• gnomAD v4: 11-72721907-CTGCGTA-C
• MyVariant Identifiers: chr11:g.72432953_72432958del (hg19) ; chr11:g.72721908_72721913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72721911_72721916del , CM000673.2:g.72721911_72721916del	GRCh38
NC_000011.9:g.72432956_72432961del , CM000673.1:g.72432956_72432961del	GRCh37
NC_000011.8:g.72110604_72110609del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393609.8:c.509+4707_509+4712del MANE Select	ENSP00000377233.3:n.509+4707_509+4712del
ENST00000334211.12:c.-290_-285del	ENSP00000335506.8:n.-290_-285del
ENST00000359373.9:c.509+4707_509+4712del	ENSP00000352332.5:n.509+4707_509+4712del
ENST00000393609.7:c.509+4707_509+4712del	ENSP00000377233.3:n.509+4707_509+4712del
ENST00000426523.5:c.-290_-285del	ENSP00000392264.1:n.-290_-285del
ENST00000429686.5:c.-290_-285del	ENSP00000403127.1:n.-290_-285del
ENST00000465814.5:n.176_181del
NM_001040118.2:c.509+4707_509+4712del	NP_001035207.1:n.509+4707_509+4712del
NM_001135190.1:c.-290_-285del	NP_001128662.1:n.-290_-285del
NM_015242.4:c.-290_-285del	NP_056057.2:n.-290_-285del
NM_001369489.1:c.-290_-285del	NP_001356418.1:n.-290_-285del
NR_161388.1:n.428_433del
NM_001040118.3:c.509+4707_509+4712del MANE Select	NP_001035207.1:n.509+4707_509+4712del
NM_001135190.2:c.-290_-285del	NP_001128662.1:n.-290_-285del
NM_015242.5:c.-290_-285del	NP_056057.2:n.-290_-285del