Canonical Allele Identifier: CA2617528383

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068752_9068753del , CM000674.2:g.9068752_9068753del GRCh38
NC_000012.11:g.9221348_9221349del , CM000674.1:g.9221348_9221349del GRCh37
NC_000012.10:g.9112615_9112616del NCBI36
NG_011717.1:g.52210_52211del
NG_011717.2:g.52210_52211del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4353_4354del (A2M) MANE Select ENSP00000323929.8:p.Asp1451GlufsTer6
ENST00000318602.11:c.4353_4354del (A2M) ENSP00000323929.7:p.Asp1451GlufsTer6
ENST00000495442.1:n.203_204del (A2M)
ENST00000495709.1:n.326_327del (A2M)
ENST00000543436.2:n.452-941_452-940del (A2M)
NM_000014.4:c.4353_4354del (A2M) NP_000005.2:p.Asp1451GlufsTer6
XM_006719056.2:c.4353_4354del (A2M) XP_006719119.1:p.Asp1451GlufsTer6
NM_000014.5:c.4353_4354del (A2M) NP_000005.2:p.Asp1451GlufsTer6
NM_001347423.1:c.4353_4354del (A2M) NP_001334352.1:p.Asp1451GlufsTer6
NM_001347424.1:c.4053_4054del (A2M) NP_001334353.1:p.Asp1351GlufsTer6
NM_001347425.1:c.3903_3904del (A2M) NP_001334354.1:p.Asp1301GlufsTer6
XM_006719056.3:c.4353_4354del (A2M) XP_006719119.1:p.Asp1451GlufsTer6
XM_017018683.1:c.*33+10586_*33+10587del (KLRG1) XP_016874172.1:n.*33+10586_*33+10587del
XM_017018684.1:c.*33+10586_*33+10587del (KLRG1) XP_016874173.1:n.*33+10586_*33+10587del
XM_017018685.1:c.*33+10586_*33+10587del (KLRG1) XP_016874174.1:n.*33+10586_*33+10587del
NM_000014.6:c.4353_4354del (A2M) MANE Select NP_000005.3:p.Asp1451GlufsTer6
NM_001347423.2:c.4353_4354del (A2M) NP_001334352.2:p.Asp1451GlufsTer6
NM_001347424.2:c.4053_4054del (A2M) NP_001334353.2:p.Asp1351GlufsTer6
NM_001347425.2:c.3903_3904del (A2M) NP_001334354.2:p.Asp1301GlufsTer6