Canonical Allele Identifier: CA915943665

Linked Data

dbSNP Id: rs1585429783

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583750_131583751del , CM000668.2:g.131583750_131583751del GRCh38
NC_000006.11:g.131904890_131904891del , CM000668.1:g.131904890_131904891del GRCh37
NC_000006.10:g.131946583_131946584del NCBI36
NG_007086.2:g.15526_15527del
NG_031860.1:g.49476_49477del
NG_031860.2:g.49476_49477del

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.811_812del (ARG1) MANE Select ENSP00000357066.3:p.Ser271ArgfsTer?
ENST00000640973.1:c.605-52_605-51del (ARG1) ENSP00000492623.1:n.605-52_605-51del
ENST00000672233.1:c.757_758del (ARG1) ENSP00000499826.1:p.Ser253ArgfsTer?
ENST00000673234.1:c.*698_*699del (ARG1) ENSP00000499885.1:n.*698_*699del
ENST00000673427.1:c.556_557del (ARG1) ENSP00000500160.1:p.Ser186ArgfsTer?
ENST00000354577.8:c.4095+3961_4095+3962del (MED23) ENSP00000346588.4:n.4095+3961_4095+3962de...
ENST00000356962.2:c.835_836del (ARG1) ENSP00000349446.2:p.Ser279ArgfsTer?
ENST00000368087.7:c.811_812del (ARG1) ENSP00000357066.3:p.Ser271ArgfsTer?
NM_000045.3:c.811_812del (ARG1) NP_000036.2:p.Ser271ArgfsTer?
NM_001244438.1:c.835_836del (ARG1) NP_001231367.1:p.Ser279ArgfsTer?
NM_001270521.1:c.4077+3961_4077+3962del (MED23) NP_001257450.1:n.4077+3961_4077+3962del
NM_015979.3:c.4095+3961_4095+3962del (MED23) NP_057063.2:n.4095+3961_4095+3962del
XM_011535801.1:c.556_557del (ARG1) XP_011534103.1:p.Ser186ArgfsTer?
XM_011535801.2:c.556_557del (ARG1) XP_011534103.1:p.Ser186ArgfsTer?
NM_000045.4:c.811_812del (ARG1) MANE Select NP_000036.2:p.Ser271ArgfsTer?
NM_001244438.2:c.835_836del (ARG1) NP_001231367.1:p.Ser279ArgfsTer?
NM_001270521.2:c.4077+3961_4077+3962del (MED23) NP_001257450.1:n.4077+3961_4077+3962del
NM_001369020.1:c.556_557del (ARG1) NP_001355949.1:p.Ser186ArgfsTer?
NM_015979.4:c.4095+3961_4095+3962del (MED23) NP_057063.2:n.4095+3961_4095+3962del
NR_160934.1:n.795_796del (ARG1)