Canonical Allele Identifier: CA1664138127

Linked Data

dbSNP Id: rs1774076854

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131584015del , CM000668.2:g.131584015del GRCh38
NC_000006.11:g.131905155del , CM000668.1:g.131905155del GRCh37
NC_000006.10:g.131946848del NCBI36
NG_007086.2:g.15791del
NG_031860.1:g.49213del
NG_031860.2:g.49213del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.*107del (ARG1) MANE Select ENSP00000357066.3:n.*107del
ENST00000673234.1:c.*963del (ARG1) ENSP00000499885.1:n.*963del
ENST00000673427.1:c.*107del (ARG1) ENSP00000500160.1:n.*107del
ENST00000354577.8:c.4095+3698del (MED23) ENSP00000346588.4:n.4095+3698del
ENST00000356962.2:c.*107del (ARG1) ENSP00000349446.2:n.*107del
ENST00000368087.7:c.*107del (ARG1) ENSP00000357066.3:n.*107del
NM_000045.3:c.*107del (ARG1) NP_000036.2:n.*107del
NM_001244438.1:c.*107del (ARG1) NP_001231367.1:n.*107del
NM_001270521.1:c.4077+3698del (MED23) NP_001257450.1:n.4077+3698del
NM_015979.3:c.4095+3698del (MED23) NP_057063.2:n.4095+3698del
XM_011535801.1:c.*107del (ARG1) XP_011534103.1:n.*107del
XM_011535801.2:c.*107del (ARG1) XP_011534103.1:n.*107del
NM_000045.4:c.*107del (ARG1) MANE Select NP_000036.2:n.*107del
NM_001244438.2:c.*107del (ARG1) NP_001231367.1:n.*107del
NM_001270521.2:c.4077+3698del (MED23) NP_001257450.1:n.4077+3698del
NM_001369020.1:c.*107del (ARG1) NP_001355949.1:n.*107del
NM_015979.4:c.4095+3698del (MED23) NP_057063.2:n.4095+3698del
NR_160934.1:n.1060del (ARG1)