Canonical Allele Identifier: CA2392434292

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990553_45990563delinsAGGACGGGGAG , CM000683.2:g.45990553_45990563delinsAGGACGGGGAG	GRCh38
NC_000021.8:g.47410467_47410477delinsAGGACGGGGAG , CM000683.1:g.47410467_47410477delinsAGGACGGGGAG	GRCh37
NC_000021.7:g.46234895_46234905delinsAGGACGGGGAG	NCBI36
NG_008674.1:g.13805_13815delinsAGGACGGGGAG , LRG_475:g.13805_13815delinsAGGACGGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+131_1002+141delinsAGGACGGGGAG MANE Select	ENSP00000355180.3:n.1002+131_1002+141delinsAGGACGGGGAG
ENST00000361866.7:c.1002+131_1002+141delinsAGGACGGGGAG	ENSP00000355180.3:n.1002+131_1002+141delinsAGGACGGGGAG
ENST00000612273.1:c.1002+131_1002+141delinsAGGACGGGGAG	ENSP00000483630.1:n.1002+131_1002+141delinsAGGACGGGGAG
NM_001848.2:c.1002+131_1002+141delinsAGGACGGGGAG , LRG_475t1:c.1002+131_1002+141delinsAGGACGGGGAG	NP_001839.2:n.1002+131_1002+141delinsAGGACGGGGAG
NM_001848.3:c.1002+131_1002+141delinsAGGACGGGGAG MANE Select	NP_001839.2:n.1002+131_1002+141delinsAGGACGGGGAG