Canonical Allele Identifier: CA2523274247

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG , CM000683.2:g.45990466_45990467insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	GRCh38
NC_000021.8:g.47410380_47410381insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG , CM000683.1:g.47410380_47410381insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	GRCh37
NC_000021.7:g.46234808_46234809insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	NCBI36
NG_008674.1:g.13718_13719insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG , LRG_475:g.13718_13719insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG MANE Select	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
ENST00000361866.7:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	ENSP00000355180.3:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
ENST00000612273.1:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	ENSP00000483630.1:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTG...
NM_001848.2:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG , LRG_475t1:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG	NP_001839.2:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGT...
NM_001848.3:c.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGG MANE Select	NP_001839.2:n.1002+44_1002+45insGGTGACCGGGGAGGGATGGGGTGGACAGT...