Canonical Allele Identifier: CA2392434325

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990588_45990596delinsGATCCCGGC , CM000683.2:g.45990588_45990596delinsGATCCCGGC	GRCh38
NC_000021.8:g.47410502_47410510delinsGATCCCGGC , CM000683.1:g.47410502_47410510delinsGATCCCGGC	GRCh37
NC_000021.7:g.46234930_46234938delinsGATCCCGGC	NCBI36
NG_008674.1:g.13840_13848delinsGATCCCGGC , LRG_475:g.13840_13848delinsGATCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+166_1002+174delinsGATCCCGGC MANE Select	ENSP00000355180.3:n.1002+166_1002+174delinsGATCCCGGC
ENST00000361866.7:c.1002+166_1002+174delinsGATCCCGGC	ENSP00000355180.3:n.1002+166_1002+174delinsGATCCCGGC
ENST00000612273.1:c.1002+166_1002+174delinsGATCCCGGC	ENSP00000483630.1:n.1002+166_1002+174delinsGATCCCGGC
NM_001848.2:c.1002+166_1002+174delinsGATCCCGGC , LRG_475t1:c.1002+166_1002+174delinsGATCCCGGC	NP_001839.2:n.1002+166_1002+174delinsGATCCCGGC
NM_001848.3:c.1002+166_1002+174delinsGATCCCGGC MANE Select	NP_001839.2:n.1002+166_1002+174delinsGATCCCGGC