Canonical Allele Identifier: CA2392434234

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990486_45990491delinsACGGAG , CM000683.2:g.45990486_45990491delinsACGGAG	GRCh38
NC_000021.8:g.47410400_47410405delinsACGGAG , CM000683.1:g.47410400_47410405delinsACGGAG	GRCh37
NC_000021.7:g.46234828_46234833delinsACGGAG	NCBI36
NG_008674.1:g.13738_13743delinsACGGAG , LRG_475:g.13738_13743delinsACGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+64_1002+69delinsACGGAG MANE Select	ENSP00000355180.3:n.1002+64_1002+69delinsACGGAG
ENST00000361866.7:c.1002+64_1002+69delinsACGGAG	ENSP00000355180.3:n.1002+64_1002+69delinsACGGAG
ENST00000612273.1:c.1002+64_1002+69delinsACGGAG	ENSP00000483630.1:n.1002+64_1002+69delinsACGGAG
NM_001848.2:c.1002+64_1002+69delinsACGGAG , LRG_475t1:c.1002+64_1002+69delinsACGGAG	NP_001839.2:n.1002+64_1002+69delinsACGGAG
NM_001848.3:c.1002+64_1002+69delinsACGGAG MANE Select	NP_001839.2:n.1002+64_1002+69delinsACGGAG