Canonical Allele Identifier: CA2737648876

Gene: COL6A1

Linked Data

• dbSNP Id: rs2123472609

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990515_45990526dup , CM000683.2:g.45990515_45990526dup	GRCh38
NC_000021.8:g.47410429_47410440dup , CM000683.1:g.47410429_47410440dup	GRCh37
NC_000021.7:g.46234857_46234868dup	NCBI36
NG_008674.1:g.13767_13778dup , LRG_475:g.13767_13778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+93_1002+104dup MANE Select	ENSP00000355180.3:n.1002+93_1002+104dup
ENST00000361866.7:c.1002+93_1002+104dup	ENSP00000355180.3:n.1002+93_1002+104dup
ENST00000612273.1:c.1002+93_1002+104dup	ENSP00000483630.1:n.1002+93_1002+104dup
NM_001848.2:c.1002+93_1002+104dup , LRG_475t1:c.1002+93_1002+104dup	NP_001839.2:n.1002+93_1002+104dup
NM_001848.3:c.1002+93_1002+104dup MANE Select	NP_001839.2:n.1002+93_1002+104dup