Canonical Allele Identifier: CA917861943

Linked Data

dbSNP Id: rs1585430273

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583838_131583839del , CM000668.2:g.131583838_131583839del GRCh38
NC_000006.11:g.131904978_131904979del , CM000668.1:g.131904978_131904979del GRCh37
NC_000006.10:g.131946671_131946672del NCBI36
NG_007086.2:g.15614_15615del
NG_031860.1:g.49385_49386del
NG_031860.2:g.49385_49386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.899_900del (ARG1) MANE Select ENSP00000357066.3:p.Thr300IlefsTer11
ENST00000640973.1:c.641_642del (ARG1) ENSP00000492623.1:p.Thr214IlefsTer11
ENST00000672233.1:c.845_846del (ARG1) ENSP00000499826.1:p.Thr282IlefsTer11
ENST00000673234.1:c.*786_*787del (ARG1) ENSP00000499885.1:n.*786_*787del
ENST00000673427.1:c.644_645del (ARG1) ENSP00000500160.1:p.Thr215IlefsTer11
ENST00000354577.8:c.4095+3870_4095+3871del (MED23) ENSP00000346588.4:n.4095+3870_4095+3871del
ENST00000356962.2:c.923_924del (ARG1) ENSP00000349446.2:p.Thr308IlefsTer11
ENST00000368087.7:c.899_900del (ARG1) ENSP00000357066.3:p.Thr300IlefsTer11
NM_000045.3:c.899_900del (ARG1) NP_000036.2:p.Thr300IlefsTer11
NM_001244438.1:c.923_924del (ARG1) NP_001231367.1:p.Thr308IlefsTer11
NM_001270521.1:c.4077+3870_4077+3871del (MED23) NP_001257450.1:n.4077+3870_4077+3871del
NM_015979.3:c.4095+3870_4095+3871del (MED23) NP_057063.2:n.4095+3870_4095+3871del
XM_011535801.1:c.644_645del (ARG1) XP_011534103.1:p.Thr215IlefsTer11
XM_011535801.2:c.644_645del (ARG1) XP_011534103.1:p.Thr215IlefsTer11
NM_000045.4:c.899_900del (ARG1) MANE Select NP_000036.2:p.Thr300IlefsTer11
NM_001244438.2:c.923_924del (ARG1) NP_001231367.1:p.Thr308IlefsTer11
NM_001270521.2:c.4077+3870_4077+3871del (MED23) NP_001257450.1:n.4077+3870_4077+3871del
NM_001369020.1:c.644_645del (ARG1) NP_001355949.1:p.Thr215IlefsTer11
NM_015979.4:c.4095+3870_4095+3871del (MED23) NP_057063.2:n.4095+3870_4095+3871del
NR_160934.1:n.883_884del (ARG1)