Canonical Allele Identifier: CA913109528

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583796_131583799del , CM000668.2:g.131583796_131583799del GRCh38
NC_000006.11:g.131904936_131904939del , CM000668.1:g.131904936_131904939del GRCh37
NC_000006.10:g.131946629_131946632del NCBI36
NG_007086.2:g.15572_15575del
NG_031860.1:g.49425_49428del
NG_031860.2:g.49425_49428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.857_860del (ARG1) MANE Select ENSP00000357066.3:p.Pro286GlnfsTer3
ENST00000640973.1:c.605-6_605-3del (ARG1) ENSP00000492623.1:n.605-6_605-3del
ENST00000672233.1:c.803_806del (ARG1) ENSP00000499826.1:p.Pro268GlnfsTer3
ENST00000673234.1:c.*744_*747del (ARG1) ENSP00000499885.1:n.*744_*747del
ENST00000673427.1:c.602_605del (ARG1) ENSP00000500160.1:p.Pro201GlnfsTer3
ENST00000354577.8:c.4095+3910_4095+3913del (MED23) ENSP00000346588.4:n.4095+3910_4095+3913del
ENST00000356962.2:c.881_884del (ARG1) ENSP00000349446.2:p.Pro294GlnfsTer3
ENST00000368087.7:c.857_860del (ARG1) ENSP00000357066.3:p.Pro286GlnfsTer3
NM_000045.3:c.857_860del (ARG1) NP_000036.2:p.Pro286GlnfsTer3
NM_001244438.1:c.881_884del (ARG1) NP_001231367.1:p.Pro294GlnfsTer3
NM_001270521.1:c.4077+3910_4077+3913del (MED23) NP_001257450.1:n.4077+3910_4077+3913del
NM_015979.3:c.4095+3910_4095+3913del (MED23) NP_057063.2:n.4095+3910_4095+3913del
XM_011535801.1:c.602_605del (ARG1) XP_011534103.1:p.Pro201GlnfsTer3
XM_011535801.2:c.602_605del (ARG1) XP_011534103.1:p.Pro201GlnfsTer3
NM_000045.4:c.857_860del (ARG1) MANE Select NP_000036.2:p.Pro286GlnfsTer3
NM_001244438.2:c.881_884del (ARG1) NP_001231367.1:p.Pro294GlnfsTer3
NM_001270521.2:c.4077+3910_4077+3913del (MED23) NP_001257450.1:n.4077+3910_4077+3913del
NM_001369020.1:c.602_605del (ARG1) NP_001355949.1:p.Pro201GlnfsTer3
NM_015979.4:c.4095+3910_4095+3913del (MED23) NP_057063.2:n.4095+3910_4095+3913del
NR_160934.1:n.841_844del (ARG1)