Canonical Allele Identifier: CA2392434204

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990467_45990474delinsTGGGGCGA , CM000683.2:g.45990467_45990474delinsTGGGGCGA	GRCh38
NC_000021.8:g.47410381_47410388delinsTGGGGCGA , CM000683.1:g.47410381_47410388delinsTGGGGCGA	GRCh37
NC_000021.7:g.46234809_46234816delinsTGGGGCGA	NCBI36
NG_008674.1:g.13719_13726delinsTGGGGCGA , LRG_475:g.13719_13726delinsTGGGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+45_1002+52delinsTGGGGCGA MANE Select	ENSP00000355180.3:n.1002+45_1002+52delinsTGGGGCGA
ENST00000361866.7:c.1002+45_1002+52delinsTGGGGCGA	ENSP00000355180.3:n.1002+45_1002+52delinsTGGGGCGA
ENST00000612273.1:c.1002+45_1002+52delinsTGGGGCGA	ENSP00000483630.1:n.1002+45_1002+52delinsTGGGGCGA
NM_001848.2:c.1002+45_1002+52delinsTGGGGCGA , LRG_475t1:c.1002+45_1002+52delinsTGGGGCGA	NP_001839.2:n.1002+45_1002+52delinsTGGGGCGA
NM_001848.3:c.1002+45_1002+52delinsTGGGGCGA MANE Select	NP_001839.2:n.1002+45_1002+52delinsTGGGGCGA