Canonical Allele Identifier: CA2392430036

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45984352_45984387delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA , CM000683.2:g.45984352_45984387delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	GRCh38
NC_000021.8:g.47404266_47404301delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA , CM000683.1:g.47404266_47404301delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	GRCh37
NC_000021.7:g.46228694_46228729delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	NCBI36
NG_008674.1:g.7604_7639delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA , LRG_475:g.7604_7639delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA MANE Select	ENSP00000355180.3:p.Thr104=
ENST00000361866.7:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	ENSP00000355180.3:p.Thr104=
ENST00000612273.1:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	ENSP00000483630.1:p.Thr104=
NM_001848.2:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA , LRG_475t1:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	NP_001839.2:p.Thr104=
NM_001848.3:c.311_346delinsCGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA MANE Select	NP_001839.2:p.Thr104=