Canonical Allele Identifier: CA2392434435

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990780_45990781delinsTG , CM000683.2:g.45990780_45990781delinsTG	GRCh38
NC_000021.8:g.47410694_47410695delinsTG , CM000683.1:g.47410694_47410695delinsTG	GRCh37
NC_000021.7:g.46235122_46235123delinsTG	NCBI36
NG_008674.1:g.14032_14033delinsTG , LRG_475:g.14032_14033delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1010_1011delinsTG MANE Select	ENSP00000355180.3:p.Met337=
ENST00000361866.7:c.1010_1011delinsTG	ENSP00000355180.3:p.Met337=
ENST00000612273.1:c.1010_1011delinsTG	ENSP00000483630.1:p.Met337=
NM_001848.2:c.1010_1011delinsTG , LRG_475t1:c.1010_1011delinsTG	NP_001839.2:p.Met337=
NM_001848.3:c.1010_1011delinsTG MANE Select	NP_001839.2:p.Met337=