Canonical Allele Identifier: CA2573138274

Linked Data

ClinVar Variation Id: 1669755
ClinVar RCV Id: RCV002200934
dbSNP Id: rs2152388021

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808335_5808340del , CM000666.2:g.5808335_5808340del GRCh38
NC_000004.11:g.5810062_5810067del , CM000666.1:g.5810062_5810067del GRCh37
NC_000004.10:g.5860963_5860968del NCBI36
NG_008843.1:g.102139_102144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2688+8_2688+13del (EVC) MANE Select ENSP00000264956.6:n.2688+8_2688+13del
ENST00000264956.10:c.2688+8_2688+13del (EVC) ENSP00000264956.6:n.2688+8_2688+13del
ENST00000506216.5:n.1647+17156_1647+17161del (CRMP1)
NM_001306090.1:c.2688+8_2688+13del (EVC) NP_001293019.1:n.2688+8_2688+13del
NM_153717.2:c.2688+8_2688+13del (EVC) NP_714928.1:n.2688+8_2688+13del
XM_006713865.2:c.2688+8_2688+13del (EVC) XP_006713928.1:n.2688+8_2688+13del
XM_006713866.2:c.2688+8_2688+13del (EVC) XP_006713929.1:n.2688+8_2688+13del
XR_427473.2:n.2878+8_2878+13del (EVC)
XR_427475.2:n.2878+8_2878+13del (EVC)
XR_427476.2:n.2878+8_2878+13del (EVC)
XR_924920.1:n.2878+8_2878+13del (EVC)
XR_924921.1:n.2878+8_2878+13del (EVC)
XR_924922.1:n.2878+8_2878+13del (EVC)
XR_924923.1:n.2878+8_2878+13del (EVC)
XR_924924.1:n.2878+8_2878+13del (EVC)
XR_924925.1:n.2878+8_2878+13del (EVC)
XR_924926.1:n.2878+8_2878+13del (EVC)
XR_924927.1:n.2878+8_2878+13del (EVC)
XM_006713865.3:c.2688+8_2688+13del (EVC) XP_006713928.1:n.2688+8_2688+13del
XM_006713866.3:c.2688+8_2688+13del (EVC) XP_006713929.1:n.2688+8_2688+13del
XR_001741164.1:n.2868+8_2868+13del (EVC)
XR_001741165.1:n.2868+8_2868+13del (EVC)
XR_001741166.1:n.2868+8_2868+13del (EVC)
XR_001741167.1:n.2868+8_2868+13del (EVC)
XR_001741168.1:n.2868+8_2868+13del (EVC)
XR_001741169.2:n.2732+8_2732+13del (EVC)
XR_001741170.1:n.2953+8_2953+13del (EVC)
XR_001741171.1:n.2173+8_2173+13del (EVC)
XR_427473.3:n.2868+8_2868+13del (EVC)
XR_427475.3:n.2868+8_2868+13del (EVC)
XR_427476.3:n.2868+8_2868+13del (EVC)
XR_924920.2:n.2868+8_2868+13del (EVC)
XR_924921.2:n.2868+8_2868+13del (EVC)
XR_924922.2:n.2868+8_2868+13del (EVC)
XR_924924.2:n.2868+8_2868+13del (EVC)
XR_924925.2:n.2868+8_2868+13del (EVC)
XR_924926.2:n.2868+8_2868+13del (EVC)
NM_153717.3:c.2688+8_2688+13del (EVC) MANE Select NP_714928.1:n.2688+8_2688+13del
NM_001306090.2:c.2688+8_2688+13del (EVC) NP_001293019.1:n.2688+8_2688+13del