Canonical Allele Identifier: CA693262468
Gene: A2M HGNC NCBI
KLRG1 HGNC NCBI

Linked Data

dbSNP Id: rs1441867582
gnomAD v3: 12-9068538-TTAG-T
gnomAD v4: 12-9068538-TTAG-T
MyVariant Identifiers: chr12:g.9221135_9221137del (hg19) chr12:g.9068539_9068541del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068543_9068545del , CM000674.2:g.9068543_9068545del GRCh38
NC_000012.11:g.9221139_9221141del , CM000674.1:g.9221139_9221141del GRCh37
NC_000012.10:g.9112406_9112408del NCBI36
NG_011717.1:g.52422_52424del
NG_011717.2:g.52422_52424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4366+199_4366+201del (A2M) MANE Select ENSP00000323929.8:n.4366+199_4366+201del
ENST00000318602.11:c.4366+199_4366+201del (A2M) ENSP00000323929.7:n.4366+199_4366+201del
ENST00000495442.1:n.216+199_216+201del (A2M)
ENST00000495709.1:n.339+199_339+201del (A2M)
ENST00000543436.2:n.452-729_452-727del (A2M)
NM_000014.4:c.4366+199_4366+201del (A2M) NP_000005.2:n.4366+199_4366+201del
XM_006719056.2:c.4366+199_4366+201del (A2M) XP_006719119.1:n.4366+199_4366+201del
NM_000014.5:c.4366+199_4366+201del (A2M) NP_000005.2:n.4366+199_4366+201del
NM_001347423.1:c.4366+199_4366+201del (A2M) NP_001334352.1:n.4366+199_4366+201del
NM_001347424.1:c.4066+199_4066+201del (A2M) NP_001334353.1:n.4066+199_4066+201del
NM_001347425.1:c.3916+199_3916+201del (A2M) NP_001334354.1:n.3916+199_3916+201del
XM_006719056.3:c.4366+199_4366+201del (A2M) XP_006719119.1:n.4366+199_4366+201del
XM_017018683.1:c.*33+10377_*33+10379del (KLRG1) XP_016874172.1:n.*33+10377_*33+10379del
XM_017018684.1:c.*33+10377_*33+10379del (KLRG1) XP_016874173.1:n.*33+10377_*33+10379del
XM_017018685.1:c.*33+10377_*33+10379del (KLRG1) XP_016874174.1:n.*33+10377_*33+10379del
NM_000014.6:c.4366+199_4366+201del (A2M) MANE Select NP_000005.3:n.4366+199_4366+201del
NM_001347423.2:c.4366+199_4366+201del (A2M) NP_001334352.2:n.4366+199_4366+201del
NM_001347424.2:c.4066+199_4066+201del (A2M) NP_001334353.2:n.4066+199_4066+201del
NM_001347425.2:c.3916+199_3916+201del (A2M) NP_001334354.2:n.3916+199_3916+201del
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