Canonical Allele Identifier: CA2392434218

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990474_45990479delinsAGATGG , CM000683.2:g.45990474_45990479delinsAGATGG	GRCh38
NC_000021.8:g.47410388_47410393delinsAGATGG , CM000683.1:g.47410388_47410393delinsAGATGG	GRCh37
NC_000021.7:g.46234816_46234821delinsAGATGG	NCBI36
NG_008674.1:g.13726_13731delinsAGATGG , LRG_475:g.13726_13731delinsAGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+52_1002+57delinsAGATGG MANE Select	ENSP00000355180.3:n.1002+52_1002+57delinsAGATGG
ENST00000361866.7:c.1002+52_1002+57delinsAGATGG	ENSP00000355180.3:n.1002+52_1002+57delinsAGATGG
ENST00000612273.1:c.1002+52_1002+57delinsAGATGG	ENSP00000483630.1:n.1002+52_1002+57delinsAGATGG
NM_001848.2:c.1002+52_1002+57delinsAGATGG , LRG_475t1:c.1002+52_1002+57delinsAGATGG	NP_001839.2:n.1002+52_1002+57delinsAGATGG
NM_001848.3:c.1002+52_1002+57delinsAGATGG MANE Select	NP_001839.2:n.1002+52_1002+57delinsAGATGG