Canonical Allele Identifier: CA2577628302
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984234_45984235del , CM000683.2:g.45984234_45984235del GRCh38
NC_000021.8:g.47404148_47404149del , CM000683.1:g.47404148_47404149del GRCh37
NC_000021.7:g.46228576_46228577del NCBI36
NG_008674.1:g.7486_7487del , LRG_475:g.7486_7487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-35_228-34del MANE Select ENSP00000355180.3:n.228-35_228-34del
ENST00000361866.7:c.228-35_228-34del ENSP00000355180.3:n.228-35_228-34del
ENST00000612273.1:c.228-35_228-34del ENSP00000483630.1:n.228-35_228-34del
NM_001848.2:c.228-35_228-34del , LRG_475t1:c.228-35_228-34del NP_001839.2:n.228-35_228-34del
NM_001848.3:c.228-35_228-34del MANE Select NP_001839.2:n.228-35_228-34del
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