Canonical Allele Identifier: CA2392434276

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990532_45990625delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG , CM000683.2:g.45990532_45990625delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	GRCh38
NC_000021.8:g.47410446_47410539delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG , CM000683.1:g.47410446_47410539delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	GRCh37
NC_000021.7:g.46234874_46234967delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	NCBI36
NG_008674.1:g.13784_13877delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG , LRG_475:g.13784_13877delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG MANE Select	ENSP00000355180.3:n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGG...
ENST00000361866.7:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	ENSP00000355180.3:n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGG...
ENST00000612273.1:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	ENSP00000483630.1:n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGG...
NM_001848.2:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG , LRG_475t1:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG	NP_001839.2:n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGG...
NM_001848.3:c.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGTGAGGTGATCCCGGCAGGAGGGACAGGGAGGAGTGGGGTGGACG MANE Select	NP_001839.2:n.1002+110_1003-148delinsAGTGTGAAGGTGACCAGGGGAAGG...