Canonical Allele Identifier: CA2392434201

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990466_45990511delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.2:g.45990466_45990511delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410380_47410425delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.1:g.47410380_47410425delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234808_46234853delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NCBI36
NG_008674.1:g.13718_13763delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475:g.13718_13763delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	ENSP00000355180.3:n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGG...
ENST00000361866.7:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000355180.3:n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGG...
ENST00000612273.1:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000483630.1:n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGG...
NM_001848.2:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475t1:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC	NP_001839.2:n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAG...
NM_001848.3:c.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	NP_001839.2:n.1002+44_1002+89delinsATGGGGCGAGATGGGGAGGGACGGAG...