Canonical Allele Identifier: CA1664138101

Linked Data

dbSNP Id: rs1774075801

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583982_131583985dup , CM000668.2:g.131583982_131583985dup GRCh38
NC_000006.11:g.131905122_131905125dup , CM000668.1:g.131905122_131905125dup GRCh37
NC_000006.10:g.131946815_131946818dup NCBI36
NG_007086.2:g.15758_15761dup
NG_031860.1:g.49240_49243dup
NG_031860.2:g.49240_49243dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.*74_*77dup (ARG1) MANE Select ENSP00000357066.3:n.*74_*77dup
ENST00000673234.1:c.*930_*933dup (ARG1) ENSP00000499885.1:n.*930_*933dup
ENST00000673427.1:c.*74_*77dup (ARG1) ENSP00000500160.1:n.*74_*77dup
ENST00000354577.8:c.4095+3725_4095+3728dup (MED23) ENSP00000346588.4:n.4095+3725_4095+3728dup
ENST00000356962.2:c.*74_*77dup (ARG1) ENSP00000349446.2:n.*74_*77dup
ENST00000368087.7:c.*74_*77dup (ARG1) ENSP00000357066.3:n.*74_*77dup
NM_000045.3:c.*74_*77dup (ARG1) NP_000036.2:n.*74_*77dup
NM_001244438.1:c.*74_*77dup (ARG1) NP_001231367.1:n.*74_*77dup
NM_001270521.1:c.4077+3725_4077+3728dup (MED23) NP_001257450.1:n.4077+3725_4077+3728dup
NM_015979.3:c.4095+3725_4095+3728dup (MED23) NP_057063.2:n.4095+3725_4095+3728dup
XM_011535801.1:c.*74_*77dup (ARG1) XP_011534103.1:n.*74_*77dup
XM_011535801.2:c.*74_*77dup (ARG1) XP_011534103.1:n.*74_*77dup
NM_000045.4:c.*74_*77dup (ARG1) MANE Select NP_000036.2:n.*74_*77dup
NM_001244438.2:c.*74_*77dup (ARG1) NP_001231367.1:n.*74_*77dup
NM_001270521.2:c.4077+3725_4077+3728dup (MED23) NP_001257450.1:n.4077+3725_4077+3728dup
NM_001369020.1:c.*74_*77dup (ARG1) NP_001355949.1:n.*74_*77dup
NM_015979.4:c.4095+3725_4095+3728dup (MED23) NP_057063.2:n.4095+3725_4095+3728dup
NR_160934.1:n.1027_1030dup (ARG1)