Canonical Allele Identifier: CA1664135525

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581415_131581416delinsCT , CM000668.2:g.131581415_131581416delinsCT GRCh38
NC_000006.11:g.131902555_131902556delinsCT , CM000668.1:g.131902555_131902556delinsCT GRCh37
NC_000006.10:g.131944248_131944249delinsCT NCBI36
NG_007086.2:g.13191_13192delinsCT
NG_031860.1:g.51808_51809delinsAG
NG_031860.2:g.51808_51809delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.465+37_465+38delinsCT (ARG1) MANE Select ENSP00000357066.3:n.465+37_465+38delinsCT
ENST00000640973.1:c.465+37_465+38delinsCT (ARG1) ENSP00000492623.1:n.465+37_465+38delinsCT
ENST00000672233.1:c.411+37_411+38delinsCT (ARG1) ENSP00000499826.1:n.411+37_411+38delinsCT
ENST00000673234.1:c.*352+37_*352+38delinsCT (ARG1) ENSP00000499885.1:n.*352+37_*352+38delinsCT
ENST00000673427.1:c.306-1645_306-1644delinsCT (ARG1) ENSP00000500160.1:n.306-1645_306-1644delinsCT
ENST00000275196.5:n.449+37_449+38delinsCT (ARG1)
ENST00000354577.8:c.4095+6293_4095+6294delinsAG (MED23) ENSP00000346588.4:n.4095+6293_4095+6294delinsAG
ENST00000356962.2:c.489+37_489+38delinsCT (ARG1) ENSP00000349446.2:n.489+37_489+38delinsCT
ENST00000368087.7:c.465+37_465+38delinsCT (ARG1) ENSP00000357066.3:n.465+37_465+38delinsCT
NM_000045.3:c.465+37_465+38delinsCT (ARG1) NP_000036.2:n.465+37_465+38delinsCT
NM_001244438.1:c.489+37_489+38delinsCT (ARG1) NP_001231367.1:n.489+37_489+38delinsCT
NM_001270521.1:c.4077+6293_4077+6294delinsAG (MED23) NP_001257450.1:n.4077+6293_4077+6294delinsAG
NM_015979.3:c.4095+6293_4095+6294delinsAG (MED23) NP_057063.2:n.4095+6293_4095+6294delinsAG
XM_011535801.1:c.306-1645_306-1644delinsCT (ARG1) XP_011534103.1:n.306-1645_306-1644delinsCT
XM_011535801.2:c.306-1645_306-1644delinsCT (ARG1) XP_011534103.1:n.306-1645_306-1644delinsCT
NM_000045.4:c.465+37_465+38delinsCT (ARG1) MANE Select NP_000036.2:n.465+37_465+38delinsCT
NM_001244438.2:c.489+37_489+38delinsCT (ARG1) NP_001231367.1:n.489+37_489+38delinsCT
NM_001270521.2:c.4077+6293_4077+6294delinsAG (MED23) NP_001257450.1:n.4077+6293_4077+6294delinsAG
NM_001369020.1:c.306-1645_306-1644delinsCT (ARG1) NP_001355949.1:n.306-1645_306-1644delinsCT
NM_015979.4:c.4095+6293_4095+6294delinsAG (MED23) NP_057063.2:n.4095+6293_4095+6294delinsAG
NR_160934.1:n.449+37_449+38delinsCT (ARG1)