Canonical Allele Identifier: CA127862

Linked Data

ClinVar Variation Id: 18173
ClinVar RCV Id: RCV000019804

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9093581_9094973del , CM000674.2:g.9093581_9094973del GRCh38
NC_000012.11:g.9246177_9247569del , CM000674.1:g.9246177_9247569del GRCh37
NC_000012.10:g.9137444_9138836del NCBI36
NG_011717.1:g.25991_27383del
NG_011717.2:g.25991_27383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2125+1_2126-1del (A2M)
ENST00000318602.11:c.2125+1_2126-1del (A2M)
ENST00000545828.1:n.348+6578_348+7970del (A2M)
ENST00000546069.1:c.444+1_445-1del (A2M)
NM_000014.4:c.2125+1_2126-1del (A2M)
XM_006719056.2:c.2125+1_2126-1del (A2M)
NM_000014.5:c.2125+1_2126-1del (A2M)
NM_001347423.1:c.2125+1_2126-1del (A2M)
NM_001347424.1:c.1825+1_1826-1del (A2M)
NM_001347425.1:c.1675+1_1676-1del (A2M)
XM_006719056.3:c.2125+1_2126-1del (A2M)
XM_017018683.1:c.*34-31793_*34-30401del (KLRG1) XP_016874172.1:n.*34-31793_*34-30401del
XM_017018684.1:c.*33+35415_*33+36807del (KLRG1) XP_016874173.1:n.*33+35415_*33+36807del
XM_017018685.1:c.*33+35415_*33+36807del (KLRG1) XP_016874174.1:n.*33+35415_*33+36807del
NM_000014.6:c.2125+1_2126-1del (A2M)
NM_001347423.2:c.2125+1_2126-1del (A2M)
NM_001347424.2:c.1825+1_1826-1del (A2M)
NM_001347425.2:c.1675+1_1676-1del (A2M)