Canonical Allele Identifier: CA2392434328

Gene: COL6A1

Linked Data

• dbSNP Id: rs2077771022

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990590_45990597del , CM000683.2:g.45990590_45990597del	GRCh38
NC_000021.8:g.47410504_47410511del , CM000683.1:g.47410504_47410511del	GRCh37
NC_000021.7:g.46234932_46234939del	NCBI36
NG_008674.1:g.13842_13849del , LRG_475:g.13842_13849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+168_1003-176del MANE Select	ENSP00000355180.3:n.1002+168_1003-176del
ENST00000361866.7:c.1002+168_1003-176del	ENSP00000355180.3:n.1002+168_1003-176del
ENST00000612273.1:c.1002+168_1003-176del	ENSP00000483630.1:n.1002+168_1003-176del
NM_001848.2:c.1002+168_1003-176del , LRG_475t1:c.1002+168_1003-176del	NP_001839.2:n.1002+168_1003-176del
NM_001848.3:c.1002+168_1003-176del MANE Select	NP_001839.2:n.1002+168_1003-176del