Canonical Allele Identifier: CA2617528400

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068830_9068833del , CM000674.2:g.9068830_9068833del GRCh38
NC_000012.11:g.9221426_9221429del , CM000674.1:g.9221426_9221429del GRCh37
NC_000012.10:g.9112693_9112696del NCBI36
NG_011717.1:g.52132_52135del
NG_011717.2:g.52132_52135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4275_4278del (A2M) MANE Select ENSP00000323929.8:p.Gln1425HisfsTer2
ENST00000318602.11:c.4275_4278del (A2M) ENSP00000323929.7:p.Gln1425HisfsTer2
ENST00000495442.1:n.125_128del (A2M)
ENST00000495709.1:n.248_251del (A2M)
ENST00000543436.2:n.452-1019_452-1016del (A2M)
NM_000014.4:c.4275_4278del (A2M) NP_000005.2:p.Gln1425HisfsTer2
XM_006719056.2:c.4275_4278del (A2M) XP_006719119.1:p.Gln1425HisfsTer2
NM_000014.5:c.4275_4278del (A2M) NP_000005.2:p.Gln1425HisfsTer2
NM_001347423.1:c.4275_4278del (A2M) NP_001334352.1:p.Gln1425HisfsTer2
NM_001347424.1:c.3975_3978del (A2M) NP_001334353.1:p.Gln1325HisfsTer2
NM_001347425.1:c.3825_3828del (A2M) NP_001334354.1:p.Gln1275HisfsTer2
XM_006719056.3:c.4275_4278del (A2M) XP_006719119.1:p.Gln1425HisfsTer2
XM_017018683.1:c.*33+10664_*33+10667del (KLRG1) XP_016874172.1:n.*33+10664_*33+10667del
XM_017018684.1:c.*33+10664_*33+10667del (KLRG1) XP_016874173.1:n.*33+10664_*33+10667del
XM_017018685.1:c.*33+10664_*33+10667del (KLRG1) XP_016874174.1:n.*33+10664_*33+10667del
NM_000014.6:c.4275_4278del (A2M) MANE Select NP_000005.3:p.Gln1425HisfsTer2
NM_001347423.2:c.4275_4278del (A2M) NP_001334352.2:p.Gln1425HisfsTer2
NM_001347424.2:c.3975_3978del (A2M) NP_001334353.2:p.Gln1325HisfsTer2
NM_001347425.2:c.3825_3828del (A2M) NP_001334354.2:p.Gln1275HisfsTer2