Canonical Allele Identifier: CA2680353531
Gene: ARG1 HGNC NCBI
MED23 HGNC NCBI

Linked Data

gnomAD v4: 6-131583541-ATATATT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.131583546_131583551del , CM000668.2:g.131583546_131583551del GRCh38
NC_000006.11:g.131904686_131904691del , CM000668.1:g.131904686_131904691del GRCh37
NC_000006.10:g.131946379_131946384del NCBI36
NG_007086.2:g.15322_15327del
NG_031860.1:g.49677_49682del
NG_031860.2:g.49677_49682del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368087.8:c.802+55_802+60del (ARG1) MANE Select ENSP00000357066.3:n.802+55_802+60del
ENST00000640973.1:c.605-256_605-251del (ARG1) ENSP00000492623.1:n.605-256_605-251del
ENST00000672233.1:c.748+55_748+60del (ARG1) ENSP00000499826.1:n.748+55_748+60del
ENST00000673234.1:c.*689+55_*689+60del (ARG1) ENSP00000499885.1:n.*689+55_*689+60del
ENST00000673427.1:c.547+55_547+60del (ARG1) ENSP00000500160.1:n.547+55_547+60del
ENST00000354577.8:c.4095+4162_4095+4167del (MED23) ENSP00000346588.4:n.4095+4162_4095+4167del
ENST00000356962.2:c.826+55_826+60del (ARG1) ENSP00000349446.2:n.826+55_826+60del
ENST00000368087.7:c.802+55_802+60del (ARG1) ENSP00000357066.3:n.802+55_802+60del
NM_000045.3:c.802+55_802+60del (ARG1) NP_000036.2:n.802+55_802+60del
NM_001244438.1:c.826+55_826+60del (ARG1) NP_001231367.1:n.826+55_826+60del
NM_001270521.1:c.4077+4162_4077+4167del (MED23) NP_001257450.1:n.4077+4162_4077+4167del
NM_015979.3:c.4095+4162_4095+4167del (MED23) NP_057063.2:n.4095+4162_4095+4167del
XM_011535801.1:c.547+55_547+60del (ARG1) XP_011534103.1:n.547+55_547+60del
XM_011535801.2:c.547+55_547+60del (ARG1) XP_011534103.1:n.547+55_547+60del
NM_000045.4:c.802+55_802+60del (ARG1) MANE Select NP_000036.2:n.802+55_802+60del
NM_001244438.2:c.826+55_826+60del (ARG1) NP_001231367.1:n.826+55_826+60del
NM_001270521.2:c.4077+4162_4077+4167del (MED23) NP_001257450.1:n.4077+4162_4077+4167del
NM_001369020.1:c.547+55_547+60del (ARG1) NP_001355949.1:n.547+55_547+60del
NM_015979.4:c.4095+4162_4095+4167del (MED23) NP_057063.2:n.4095+4162_4095+4167del
NR_160934.1:n.786+55_786+60del (ARG1)
Search 100 bp 5'
Search 100 bp 3'