Canonical Allele Identifier: CA2392434282

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990545_45990556delinsCCAGGGGAAGGA , CM000683.2:g.45990545_45990556delinsCCAGGGGAAGGA	GRCh38
NC_000021.8:g.47410459_47410470delinsCCAGGGGAAGGA , CM000683.1:g.47410459_47410470delinsCCAGGGGAAGGA	GRCh37
NC_000021.7:g.46234887_46234898delinsCCAGGGGAAGGA	NCBI36
NG_008674.1:g.13797_13808delinsCCAGGGGAAGGA , LRG_475:g.13797_13808delinsCCAGGGGAAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+123_1002+134delinsCCAGGGGAAGGA MANE Select	ENSP00000355180.3:n.1002+123_1002+134delinsCCAGGGGAAGGA
ENST00000361866.7:c.1002+123_1002+134delinsCCAGGGGAAGGA	ENSP00000355180.3:n.1002+123_1002+134delinsCCAGGGGAAGGA
ENST00000612273.1:c.1002+123_1002+134delinsCCAGGGGAAGGA	ENSP00000483630.1:n.1002+123_1002+134delinsCCAGGGGAAGGA
NM_001848.2:c.1002+123_1002+134delinsCCAGGGGAAGGA , LRG_475t1:c.1002+123_1002+134delinsCCAGGGGAAGGA	NP_001839.2:n.1002+123_1002+134delinsCCAGGGGAAGGA
NM_001848.3:c.1002+123_1002+134delinsCCAGGGGAAGGA MANE Select	NP_001839.2:n.1002+123_1002+134delinsCCAGGGGAAGGA