Canonical Allele Identifier: CA2392434188

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990462_45990467delinsAGGAAT , CM000683.2:g.45990462_45990467delinsAGGAAT	GRCh38
NC_000021.8:g.47410376_47410381delinsAGGAAT , CM000683.1:g.47410376_47410381delinsAGGAAT	GRCh37
NC_000021.7:g.46234804_46234809delinsAGGAAT	NCBI36
NG_008674.1:g.13714_13719delinsAGGAAT , LRG_475:g.13714_13719delinsAGGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+40_1002+45delinsAGGAAT MANE Select	ENSP00000355180.3:n.1002+40_1002+45delinsAGGAAT
ENST00000361866.7:c.1002+40_1002+45delinsAGGAAT	ENSP00000355180.3:n.1002+40_1002+45delinsAGGAAT
ENST00000612273.1:c.1002+40_1002+45delinsAGGAAT	ENSP00000483630.1:n.1002+40_1002+45delinsAGGAAT
NM_001848.2:c.1002+40_1002+45delinsAGGAAT , LRG_475t1:c.1002+40_1002+45delinsAGGAAT	NP_001839.2:n.1002+40_1002+45delinsAGGAAT
NM_001848.3:c.1002+40_1002+45delinsAGGAAT MANE Select	NP_001839.2:n.1002+40_1002+45delinsAGGAAT