Canonical Allele Identifier: CA2818093064

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990511_45990512insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.2:g.45990511_45990512insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410425_47410426insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.1:g.47410425_47410426insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234853_46234854insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NCBI36
NG_008674.1:g.13763_13764insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475:g.13763_13764insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	ENSP00000355180.3:n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGT...
ENST00000361866.7:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000355180.3:n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGT...
ENST00000612273.1:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000483630.1:n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGT...
NM_001848.2:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475t1:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NP_001839.2:n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAG...
NM_001848.3:c.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	NP_001839.2:n.1002+89_1002+90insTGGGGAGGGATGGGGTGGACAGTGTGAAG...