Canonical Allele Identifier: CA2773073121

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583576_131583577insCAAACACACCCAACAC , CM000668.2:g.131583576_131583577insCAAACACACCCAACAC GRCh38
NC_000006.11:g.131904716_131904717insCAAACACACCCAACAC , CM000668.1:g.131904716_131904717insCAAACACACCCAACAC GRCh37
NC_000006.10:g.131946409_131946410insCAAACACACCCAACAC NCBI36
NG_007086.2:g.15352_15353insCAAACACACCCAACAC
NG_031860.1:g.49648_49649insTGTTGGGTGTGTTTGG
NG_031860.2:g.49648_49649insTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000368087.8:c.802+85_802+86insCAAACACACCCAACAC (ARG1) MANE Select ENSP00000357066.3:n.802+85_802+86insCAAACACACCCAACAC
ENST00000640973.1:c.605-226_605-225insCAAACACACCCAACAC (ARG1) ENSP00000492623.1:n.605-226_605-225insCAAACACACCCAACAC
ENST00000672233.1:c.748+85_748+86insCAAACACACCCAACAC (ARG1) ENSP00000499826.1:n.748+85_748+86insCAAACACACCCAACAC
ENST00000673234.1:c.*689+85_*689+86insCAAACACACCCAACAC (ARG1) ENSP00000499885.1:n.*689+85_*689+86insCAAACACACCCAACAC
ENST00000673427.1:c.547+85_547+86insCAAACACACCCAACAC (ARG1) ENSP00000500160.1:n.547+85_547+86insCAAACACACCCAACAC
ENST00000354577.8:c.4095+4133_4095+4134insTGTTGGGTGTGTTTGG (MED23) ENSP00000346588.4:n.4095+4133_4095+4134insTGTTGGGTGTGTTTGG
ENST00000356962.2:c.826+85_826+86insCAAACACACCCAACAC (ARG1) ENSP00000349446.2:n.826+85_826+86insCAAACACACCCAACAC
ENST00000368087.7:c.802+85_802+86insCAAACACACCCAACAC (ARG1) ENSP00000357066.3:n.802+85_802+86insCAAACACACCCAACAC
NM_000045.3:c.802+85_802+86insCAAACACACCCAACAC (ARG1) NP_000036.2:n.802+85_802+86insCAAACACACCCAACAC
NM_001244438.1:c.826+85_826+86insCAAACACACCCAACAC (ARG1) NP_001231367.1:n.826+85_826+86insCAAACACACCCAACAC
NM_001270521.1:c.4077+4133_4077+4134insTGTTGGGTGTGTTTGG (MED23) NP_001257450.1:n.4077+4133_4077+4134insTGTTGGGTGTGTTTGG
NM_015979.3:c.4095+4133_4095+4134insTGTTGGGTGTGTTTGG (MED23) NP_057063.2:n.4095+4133_4095+4134insTGTTGGGTGTGTTTGG
XM_011535801.1:c.547+85_547+86insCAAACACACCCAACAC (ARG1) XP_011534103.1:n.547+85_547+86insCAAACACACCCAACAC
XM_011535801.2:c.547+85_547+86insCAAACACACCCAACAC (ARG1) XP_011534103.1:n.547+85_547+86insCAAACACACCCAACAC
NM_000045.4:c.802+85_802+86insCAAACACACCCAACAC (ARG1) MANE Select NP_000036.2:n.802+85_802+86insCAAACACACCCAACAC
NM_001244438.2:c.826+85_826+86insCAAACACACCCAACAC (ARG1) NP_001231367.1:n.826+85_826+86insCAAACACACCCAACAC
NM_001270521.2:c.4077+4133_4077+4134insTGTTGGGTGTGTTTGG (MED23) NP_001257450.1:n.4077+4133_4077+4134insTGTTGGGTGTGTTTGG
NM_001369020.1:c.547+85_547+86insCAAACACACCCAACAC (ARG1) NP_001355949.1:n.547+85_547+86insCAAACACACCCAACAC
NM_015979.4:c.4095+4133_4095+4134insTGTTGGGTGTGTTTGG (MED23) NP_057063.2:n.4095+4133_4095+4134insTGTTGGGTGTGTTTGG
NR_160934.1:n.786+85_786+86insCAAACACACCCAACAC (ARG1)