Canonical Allele Identifier: CA2392438146
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45997702_45997703delinsTG , CM000683.2:g.45997702_45997703delinsTG GRCh38
NC_000021.8:g.47417616_47417617delinsTG , CM000683.1:g.47417616_47417617delinsTG GRCh37
NC_000021.7:g.46242044_46242045delinsTG NCBI36
NG_008674.1:g.20954_20955delinsTG , LRG_475:g.20954_20955delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000683550.1:n.239_240delinsTG
ENST00000361866.8:c.1464_1465delinsTG MANE Select ENSP00000355180.3:p.Gly488=
ENST00000361866.7:c.1464_1465delinsTG ENSP00000355180.3:p.Gly488=
ENST00000612273.1:c.1464_1465delinsTG ENSP00000483630.1:p.Gly488=
NM_001848.2:c.1464_1465delinsTG , LRG_475t1:c.1464_1465delinsTG NP_001839.2:p.Gly488=
NM_001848.3:c.1464_1465delinsTG MANE Select NP_001839.2:p.Gly488=
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