Canonical Allele Identifier: CA2818093063

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990516_45990517insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG , CM000683.2:g.45990516_45990517insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	GRCh38
NC_000021.8:g.47410430_47410431insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG , CM000683.1:g.47410430_47410431insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	GRCh37
NC_000021.7:g.46234858_46234859insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	NCBI36
NG_008674.1:g.13768_13769insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG , LRG_475:g.13768_13769insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG MANE Select	ENSP00000355180.3:n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAA...
ENST00000361866.7:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	ENSP00000355180.3:n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAA...
ENST00000612273.1:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	ENSP00000483630.1:n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAA...
NM_001848.2:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG , LRG_475t1:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG	NP_001839.2:n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGAC...
NM_001848.3:c.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGG MANE Select	NP_001839.2:n.1002+94_1002+95insCGGGATGGGGTGGACAGTGTGAAGGTGAC...