Canonical Allele Identifier: CA2392434281

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990545_45990566delinsCCAGGGGAAGGACGGGGAGGGA , CM000683.2:g.45990545_45990566delinsCCAGGGGAAGGACGGGGAGGGA	GRCh38
NC_000021.8:g.47410459_47410480delinsCCAGGGGAAGGACGGGGAGGGA , CM000683.1:g.47410459_47410480delinsCCAGGGGAAGGACGGGGAGGGA	GRCh37
NC_000021.7:g.46234887_46234908delinsCCAGGGGAAGGACGGGGAGGGA	NCBI36
NG_008674.1:g.13797_13818delinsCCAGGGGAAGGACGGGGAGGGA , LRG_475:g.13797_13818delinsCCAGGGGAAGGACGGGGAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA MANE Select	ENSP00000355180.3:n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGA...
ENST00000361866.7:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA	ENSP00000355180.3:n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGA...
ENST00000612273.1:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA	ENSP00000483630.1:n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGA...
NM_001848.2:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA , LRG_475t1:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA	NP_001839.2:n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA
NM_001848.3:c.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA MANE Select	NP_001839.2:n.1002+123_1002+144delinsCCAGGGGAAGGACGGGGAGGGA