Canonical Allele Identifier: CA6438313
Gene: A2M HGNC NCBI
KLRG1 HGNC NCBI

Linked Data

dbSNP Id: rs772057256
ExAC: 12:9242451 ATATAT / A
gnomAD v2: 12-9242451-ATATAT-A
gnomAD v3: 12-9089855-ATATAT-A
gnomAD v4: 12-9089855-ATATAT-A
MyVariant Identifiers: chr12:g.9242452_9242456del (hg19) chr12:g.9089856_9089860del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9089861_9089865del , CM000674.2:g.9089861_9089865del GRCh38
NC_000012.11:g.9242457_9242461del , CM000674.1:g.9242457_9242461del GRCh37
NC_000012.10:g.9133724_9133728del NCBI36
NG_011717.1:g.31103_31107del
NG_011717.2:g.31103_31107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2718+42_2718+46del (A2M) MANE Select ENSP00000323929.8:n.2718+42_2718+46del
ENST00000318602.11:c.2718+42_2718+46del (A2M) ENSP00000323929.7:n.2718+42_2718+46del
ENST00000462568.1:n.297+42_297+46del (A2M)
ENST00000543436.2:n.451+52_451+56del (A2M)
ENST00000545828.1:n.348+11690_348+11694del (A2M)
NM_000014.4:c.2718+42_2718+46del (A2M) NP_000005.2:n.2718+42_2718+46del
XM_006719056.2:c.2718+42_2718+46del (A2M) XP_006719119.1:n.2718+42_2718+46del
NM_000014.5:c.2718+42_2718+46del (A2M) NP_000005.2:n.2718+42_2718+46del
NM_001347423.1:c.2718+42_2718+46del (A2M) NP_001334352.1:n.2718+42_2718+46del
NM_001347424.1:c.2418+42_2418+46del (A2M) NP_001334353.1:n.2418+42_2418+46del
NM_001347425.1:c.2268+42_2268+46del (A2M) NP_001334354.1:n.2268+42_2268+46del
XM_006719056.3:c.2718+42_2718+46del (A2M) XP_006719119.1:n.2718+42_2718+46del
XM_017018683.1:c.*33+31695_*33+31699del (KLRG1) XP_016874172.1:n.*33+31695_*33+31699del
XM_017018684.1:c.*33+31695_*33+31699del (KLRG1) XP_016874173.1:n.*33+31695_*33+31699del
XM_017018685.1:c.*33+31695_*33+31699del (KLRG1) XP_016874174.1:n.*33+31695_*33+31699del
NM_000014.6:c.2718+42_2718+46del (A2M) MANE Select NP_000005.3:n.2718+42_2718+46del
NM_001347423.2:c.2718+42_2718+46del (A2M) NP_001334352.2:n.2718+42_2718+46del
NM_001347424.2:c.2418+42_2418+46del (A2M) NP_001334353.2:n.2418+42_2418+46del
NM_001347425.2:c.2268+42_2268+46del (A2M) NP_001334354.2:n.2268+42_2268+46del
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