Canonical Allele Identifier: CA2392434228

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990482_45990511delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.2:g.45990482_45990511delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh38
NC_000021.8:g.47410396_47410425delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC , CM000683.1:g.47410396_47410425delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	GRCh37
NC_000021.7:g.46234824_46234853delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	NCBI36
NG_008674.1:g.13734_13763delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475:g.13734_13763delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	ENSP00000355180.3:n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGT...
ENST00000361866.7:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000355180.3:n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGT...
ENST00000612273.1:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	ENSP00000483630.1:n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGT...
NM_001848.2:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC , LRG_475t1:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC	NP_001839.2:n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGT...
NM_001848.3:c.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGTGACC MANE Select	NP_001839.2:n.1002+60_1002+89delinsAGGGACGGAGTGGACGGCGTGAAGGT...