Canonical Allele Identifier: CA2737648347

Gene: COL6A1

Linked Data

• dbSNP Id: rs2123472517

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990487_45990488insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG , CM000683.2:g.45990487_45990488insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	GRCh38
NC_000021.8:g.47410401_47410402insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG , CM000683.1:g.47410401_47410402insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	GRCh37
NC_000021.7:g.46234829_46234830insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	NCBI36
NG_008674.1:g.13739_13740insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG , LRG_475:g.13739_13740insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG MANE Select	ENSP00000355180.3:n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCG...
ENST00000361866.7:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	ENSP00000355180.3:n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCG...
ENST00000612273.1:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	ENSP00000483630.1:n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCG...
NM_001848.2:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG , LRG_475t1:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG	NP_001839.2:n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGG...
NM_001848.3:c.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGGTATGGGCAG MANE Select	NP_001839.2:n.1002+65_1002+66insCAGGGGAAGGACTGGGAGGGGCGGGGAGG...