Canonical Allele Identifier: CA600244058

Gene: ARAP1

Linked Data

• dbSNP Id: rs1384622740
• gnomAD v2: 11-72423513-T-TCATCCC
• gnomAD v3: 11-72712468-T-TCATCCC
• gnomAD v4: 11-72712468-T-TCATCCC
• MyVariant Identifiers: chr11:g.72423513_72423514insCATCCC (hg19) ; chr11:g.72712468_72712469insCATCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712469_72712470insATCCCC , CM000673.2:g.72712469_72712470insATCCCC	GRCh38
NC_000011.9:g.72423514_72423515insATCCCC , CM000673.1:g.72423514_72423515insATCCCC	GRCh37
NC_000011.8:g.72101162_72101163insATCCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.847_848insGGGATG MANE Select	ENSP00000377233.3:p.Glu282_Glu283insGlyAsp
ENST00000334211.12:c.112_113insGGGATG	ENSP00000335506.8:p.Glu37_Glu38insGlyAsp
ENST00000359373.9:c.847_848insGGGATG	ENSP00000352332.5:p.Glu282_Glu283insGlyAsp
ENST00000393605.7:c.127_128insGGGATG	ENSP00000377230.3:p.Glu42_Glu43insGlyAsp
ENST00000393609.7:c.847_848insGGGATG	ENSP00000377233.3:p.Glu282_Glu283insGlyAsp
ENST00000426523.5:c.112_113insGGGATG	ENSP00000392264.1:p.Glu37_Glu38insGlyAsp
ENST00000429686.5:c.112_113insGGGATG	ENSP00000403127.1:p.Glu37_Glu38insGlyAsp
ENST00000465814.5:n.1184_1185insGGGATG
NM_001040118.2:c.847_848insGGGATG	NP_001035207.1:p.Glu282_Glu283insGlyAsp
NM_001135190.1:c.112_113insGGGATG	NP_001128662.1:p.Glu37_Glu38insGlyAsp
NM_015242.4:c.112_113insGGGATG	NP_056057.2:p.Glu37_Glu38insGlyAsp
NM_001369489.1:c.112_113insGGGATG	NP_001356418.1:p.Glu37_Glu38insGlyAsp
NR_161388.1:n.829_830insGGGATG
NM_001040118.3:c.847_848insGGGATG MANE Select	NP_001035207.1:p.Glu282_Glu283insGlyAsp
NM_001135190.2:c.112_113insGGGATG	NP_001128662.1:p.Glu37_Glu38insGlyAsp
NM_015242.5:c.112_113insGGGATG	NP_056057.2:p.Glu37_Glu38insGlyAsp