Canonical Allele Identifier: CA1490501057
Gene: AFG2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122938086_122938088delinsAAT , CM000666.2:g.122938086_122938088delinsAAT GRCh38
NC_000004.11:g.123859241_123859243delinsAAT , CM000666.1:g.123859241_123859243delinsAAT GRCh37
NC_000004.10:g.124078691_124078693delinsAAT NCBI36
NG_051570.1:g.20017_20019delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.1335-40_1335-38delinsAAT MANE Select ENSP00000274008.3:n.1335-40_1335-38delinsAAT
ENST00000674886.1:n.1397-40_1397-38delinsAAT
ENST00000675612.1:c.1332-40_1332-38delinsAAT ENSP00000502453.1:n.1332-40_1332-38delinsAAT
ENST00000274008.4:c.1335-40_1335-38delinsAAT ENSP00000274008.3:n.1335-40_1335-38delinsAAT
ENST00000422835.2:n.1377-40_1377-38delinsAAT
NM_145207.2:c.1335-40_1335-38delinsAAT NP_660208.2:n.1335-40_1335-38delinsAAT
XM_005262783.3:c.1332-40_1332-38delinsAAT XP_005262840.1:n.1332-40_1332-38delinsAAT
XM_011531678.1:c.1332-40_1332-38delinsAAT XP_011529980.1:n.1332-40_1332-38delinsAAT
XM_011531679.1:c.1335-40_1335-38delinsAAT XP_011529981.1:n.1335-40_1335-38delinsAAT
NM_001317799.1:c.1332-40_1332-38delinsAAT NP_001304728.1:n.1332-40_1332-38delinsAAT
NM_001345856.1:c.1332-40_1332-38delinsAAT NP_001332785.1:n.1332-40_1332-38delinsAAT
XM_011531678.2:c.1332-40_1332-38delinsAAT XP_011529980.1:n.1332-40_1332-38delinsAAT
XM_011531679.3:c.1335-40_1335-38delinsAAT XP_011529981.1:n.1335-40_1335-38delinsAAT
XM_017007825.1:c.1335-40_1335-38delinsAAT XP_016863314.1:n.1335-40_1335-38delinsAAT
XM_017007826.1:c.1335-40_1335-38delinsAAT XP_016863315.1:n.1335-40_1335-38delinsAAT
XM_017007827.2:c.1335-40_1335-38delinsAAT XP_016863316.1:n.1335-40_1335-38delinsAAT
XM_017007828.1:c.1113-40_1113-38delinsAAT XP_016863317.1:n.1113-40_1113-38delinsAAT
XM_017007829.1:c.879-40_879-38delinsAAT XP_016863318.1:n.879-40_879-38delinsAAT
XM_017007830.1:c.1335-40_1335-38delinsAAT XP_016863319.1:n.1335-40_1335-38delinsAAT
XR_001741151.1:n.1405-40_1405-38delinsAAT
NM_145207.3:c.1335-40_1335-38delinsAAT MANE Select NP_660208.2:n.1335-40_1335-38delinsAAT
NM_001317799.2:c.1332-40_1332-38delinsAAT NP_001304728.1:n.1332-40_1332-38delinsAAT
NM_001345856.2:c.1332-40_1332-38delinsAAT NP_001332785.1:n.1332-40_1332-38delinsAAT