Canonical Allele Identifier: CA1664135505

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131581387_131581389delinsCTG , CM000668.2:g.131581387_131581389delinsCTG GRCh38
NC_000006.11:g.131902527_131902529delinsCTG , CM000668.1:g.131902527_131902529delinsCTG GRCh37
NC_000006.10:g.131944220_131944222delinsCTG NCBI36
NG_007086.2:g.13163_13165delinsCTG
NG_031860.1:g.51835_51837delinsCAG
NG_031860.2:g.51835_51837delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.465+9_465+11delinsCTG (ARG1) MANE Select ENSP00000357066.3:n.465+9_465+11delinsCTG
ENST00000640973.1:c.465+9_465+11delinsCTG (ARG1) ENSP00000492623.1:n.465+9_465+11delinsCTG
ENST00000672233.1:c.411+9_411+11delinsCTG (ARG1) ENSP00000499826.1:n.411+9_411+11delinsCTG
ENST00000673234.1:c.*352+9_*352+11delinsCTG (ARG1) ENSP00000499885.1:n.*352+9_*352+11delinsCTG
ENST00000673427.1:c.306-1673_306-1671delinsCTG (ARG1) ENSP00000500160.1:n.306-1673_306-1671delinsCTG
ENST00000275196.5:n.449+9_449+11delinsCTG (ARG1)
ENST00000354577.8:c.4095+6320_4095+6322delinsCAG (MED23) ENSP00000346588.4:n.4095+6320_4095+6322delinsCAG
ENST00000356962.2:c.489+9_489+11delinsCTG (ARG1) ENSP00000349446.2:n.489+9_489+11delinsCTG
ENST00000368087.7:c.465+9_465+11delinsCTG (ARG1) ENSP00000357066.3:n.465+9_465+11delinsCTG
NM_000045.3:c.465+9_465+11delinsCTG (ARG1) NP_000036.2:n.465+9_465+11delinsCTG
NM_001244438.1:c.489+9_489+11delinsCTG (ARG1) NP_001231367.1:n.489+9_489+11delinsCTG
NM_001270521.1:c.4077+6320_4077+6322delinsCAG (MED23) NP_001257450.1:n.4077+6320_4077+6322delinsCAG
NM_015979.3:c.4095+6320_4095+6322delinsCAG (MED23) NP_057063.2:n.4095+6320_4095+6322delinsCAG
XM_011535801.1:c.306-1673_306-1671delinsCTG (ARG1) XP_011534103.1:n.306-1673_306-1671delinsCTG
XM_011535801.2:c.306-1673_306-1671delinsCTG (ARG1) XP_011534103.1:n.306-1673_306-1671delinsCTG
NM_000045.4:c.465+9_465+11delinsCTG (ARG1) MANE Select NP_000036.2:n.465+9_465+11delinsCTG
NM_001244438.2:c.489+9_489+11delinsCTG (ARG1) NP_001231367.1:n.489+9_489+11delinsCTG
NM_001270521.2:c.4077+6320_4077+6322delinsCAG (MED23) NP_001257450.1:n.4077+6320_4077+6322delinsCAG
NM_001369020.1:c.306-1673_306-1671delinsCTG (ARG1) NP_001355949.1:n.306-1673_306-1671delinsCTG
NM_015979.4:c.4095+6320_4095+6322delinsCAG (MED23) NP_057063.2:n.4095+6320_4095+6322delinsCAG
NR_160934.1:n.449+9_449+11delinsCTG (ARG1)