Canonical Allele Identifier: CA2573138272

Linked Data

ClinVar Variation Id: 1457620
ClinVar RCV Id: RCV001953852
dbSNP Id: rs2152387847

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808273_5808274delinsTT , CM000666.2:g.5808273_5808274delinsTT GRCh38
NC_000004.11:g.5810000_5810001delinsTT , CM000666.1:g.5810000_5810001delinsTT GRCh37
NC_000004.10:g.5860901_5860902delinsTT NCBI36
NG_008843.1:g.102077_102078delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2634_2635delinsTT (EVC) MANE Select ENSP00000264956.6:p.Gln878HisfsTer2
ENST00000264956.10:c.2634_2635delinsTT (EVC) ENSP00000264956.6:p.Gln878HisfsTer2
ENST00000506216.5:n.1647+17220_1647+17221delinsAA (CRMP1)
NM_001306090.1:c.2634_2635delinsTT (EVC) NP_001293019.1:p.Gln878HisfsTer2
NM_153717.2:c.2634_2635delinsTT (EVC) NP_714928.1:p.Gln878HisfsTer2
XM_006713865.2:c.2634_2635delinsTT (EVC) XP_006713928.1:p.Gln878HisfsTer2
XM_006713866.2:c.2634_2635delinsTT (EVC) XP_006713929.1:p.Gln878HisfsTer2
XR_427473.2:n.2824_2825delinsTT (EVC)
XR_427475.2:n.2824_2825delinsTT (EVC)
XR_427476.2:n.2824_2825delinsTT (EVC)
XR_924920.1:n.2824_2825delinsTT (EVC)
XR_924921.1:n.2824_2825delinsTT (EVC)
XR_924922.1:n.2824_2825delinsTT (EVC)
XR_924923.1:n.2824_2825delinsTT (EVC)
XR_924924.1:n.2824_2825delinsTT (EVC)
XR_924925.1:n.2824_2825delinsTT (EVC)
XR_924926.1:n.2824_2825delinsTT (EVC)
XR_924927.1:n.2824_2825delinsTT (EVC)
XM_006713865.3:c.2634_2635delinsTT (EVC) XP_006713928.1:p.Gln878HisfsTer2
XM_006713866.3:c.2634_2635delinsTT (EVC) XP_006713929.1:p.Gln878HisfsTer2
XR_001741164.1:n.2814_2815delinsTT (EVC)
XR_001741165.1:n.2814_2815delinsTT (EVC)
XR_001741166.1:n.2814_2815delinsTT (EVC)
XR_001741167.1:n.2814_2815delinsTT (EVC)
XR_001741168.1:n.2814_2815delinsTT (EVC)
XR_001741169.2:n.2678_2679delinsTT (EVC)
XR_001741170.1:n.2899_2900delinsTT (EVC)
XR_001741171.1:n.2119_2120delinsTT (EVC)
XR_427473.3:n.2814_2815delinsTT (EVC)
XR_427475.3:n.2814_2815delinsTT (EVC)
XR_427476.3:n.2814_2815delinsTT (EVC)
XR_924920.2:n.2814_2815delinsTT (EVC)
XR_924921.2:n.2814_2815delinsTT (EVC)
XR_924922.2:n.2814_2815delinsTT (EVC)
XR_924924.2:n.2814_2815delinsTT (EVC)
XR_924925.2:n.2814_2815delinsTT (EVC)
XR_924926.2:n.2814_2815delinsTT (EVC)
NM_153717.3:c.2634_2635delinsTT (EVC) MANE Select NP_714928.1:p.Gln878HisfsTer2
NM_001306090.2:c.2634_2635delinsTT (EVC) NP_001293019.1:p.Gln878HisfsTer2