Canonical Allele Identifier: CA1664137850

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583811_131583812delinsGA , CM000668.2:g.131583811_131583812delinsGA GRCh38
NC_000006.11:g.131904951_131904952delinsGA , CM000668.1:g.131904951_131904952delinsGA GRCh37
NC_000006.10:g.131946644_131946645delinsGA NCBI36
NG_007086.2:g.15587_15588delinsGA
NG_031860.1:g.49412_49413delinsTC
NG_031860.2:g.49412_49413delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.872_873delinsGA (ARG1) MANE Select ENSP00000357066.3:p.Arg291=
ENST00000640973.1:c.614_615delinsGA (ARG1) ENSP00000492623.1:p.Arg205=
ENST00000672233.1:c.818_819delinsGA (ARG1) ENSP00000499826.1:p.Arg273=
ENST00000673234.1:c.*759_*760delinsGA (ARG1) ENSP00000499885.1:n.*759_*760delinsGA
ENST00000673427.1:c.617_618delinsGA (ARG1) ENSP00000500160.1:p.Arg206=
ENST00000354577.8:c.4095+3897_4095+3898delinsTC (MED23) ENSP00000346588.4:n.4095+3897_4095+3898de...
ENST00000356962.2:c.896_897delinsGA (ARG1) ENSP00000349446.2:p.Arg299=
ENST00000368087.7:c.872_873delinsGA (ARG1) ENSP00000357066.3:p.Arg291=
NM_000045.3:c.872_873delinsGA (ARG1) NP_000036.2:p.Arg291=
NM_001244438.1:c.896_897delinsGA (ARG1) NP_001231367.1:p.Arg299=
NM_001270521.1:c.4077+3897_4077+3898delinsTC (MED23) NP_001257450.1:n.4077+3897_4077+3898delin...
NM_015979.3:c.4095+3897_4095+3898delinsTC (MED23) NP_057063.2:n.4095+3897_4095+3898delinsTC...
XM_011535801.1:c.617_618delinsGA (ARG1) XP_011534103.1:p.Arg206=
XM_011535801.2:c.617_618delinsGA (ARG1) XP_011534103.1:p.Arg206=
NM_000045.4:c.872_873delinsGA (ARG1) MANE Select NP_000036.2:p.Arg291=
NM_001244438.2:c.896_897delinsGA (ARG1) NP_001231367.1:p.Arg299=
NM_001270521.2:c.4077+3897_4077+3898delinsTC (MED23) NP_001257450.1:n.4077+3897_4077+3898delin...
NM_001369020.1:c.617_618delinsGA (ARG1) NP_001355949.1:p.Arg206=
NM_015979.4:c.4095+3897_4095+3898delinsTC (MED23) NP_057063.2:n.4095+3897_4095+3898delinsTC...
NR_160934.1:n.856_857delinsGA (ARG1)