Canonical Allele Identifier: CA2575072976

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9089838_9089839del , CM000674.2:g.9089838_9089839del GRCh38
NC_000012.11:g.9242434_9242435del , CM000674.1:g.9242434_9242435del GRCh37
NC_000012.10:g.9133701_9133702del NCBI36
NG_011717.1:g.31128_31129del
NG_011717.2:g.31128_31129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2718+67_2718+68del (A2M) MANE Select ENSP00000323929.8:n.2718+67_2718+68del
ENST00000318602.11:c.2718+67_2718+68del (A2M) ENSP00000323929.7:n.2718+67_2718+68del
ENST00000462568.1:n.297+67_297+68del (A2M)
ENST00000543436.2:n.451+77_451+78del (A2M)
ENST00000545828.1:n.348+11715_348+11716del (A2M)
NM_000014.4:c.2718+67_2718+68del (A2M) NP_000005.2:n.2718+67_2718+68del
XM_006719056.2:c.2718+67_2718+68del (A2M) XP_006719119.1:n.2718+67_2718+68del
NM_000014.5:c.2718+67_2718+68del (A2M) NP_000005.2:n.2718+67_2718+68del
NM_001347423.1:c.2718+67_2718+68del (A2M) NP_001334352.1:n.2718+67_2718+68del
NM_001347424.1:c.2418+67_2418+68del (A2M) NP_001334353.1:n.2418+67_2418+68del
NM_001347425.1:c.2268+67_2268+68del (A2M) NP_001334354.1:n.2268+67_2268+68del
XM_006719056.3:c.2718+67_2718+68del (A2M) XP_006719119.1:n.2718+67_2718+68del
XM_017018683.1:c.*33+31672_*33+31673del (KLRG1) XP_016874172.1:n.*33+31672_*33+31673del
XM_017018684.1:c.*33+31672_*33+31673del (KLRG1) XP_016874173.1:n.*33+31672_*33+31673del
XM_017018685.1:c.*33+31672_*33+31673del (KLRG1) XP_016874174.1:n.*33+31672_*33+31673del
NM_000014.6:c.2718+67_2718+68del (A2M) MANE Select NP_000005.3:n.2718+67_2718+68del
NM_001347423.2:c.2718+67_2718+68del (A2M) NP_001334352.2:n.2718+67_2718+68del
NM_001347424.2:c.2418+67_2418+68del (A2M) NP_001334353.2:n.2418+67_2418+68del
NM_001347425.2:c.2268+67_2268+68del (A2M) NP_001334354.2:n.2268+67_2268+68del