Canonical Allele Identifier: CA2392434330

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990590_45990593delinsTCCC , CM000683.2:g.45990590_45990593delinsTCCC	GRCh38
NC_000021.8:g.47410504_47410507delinsTCCC , CM000683.1:g.47410504_47410507delinsTCCC	GRCh37
NC_000021.7:g.46234932_46234935delinsTCCC	NCBI36
NG_008674.1:g.13842_13845delinsTCCC , LRG_475:g.13842_13845delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+168_1002+171delinsTCCC MANE Select	ENSP00000355180.3:n.1002+168_1002+171delinsTCCC
ENST00000361866.7:c.1002+168_1002+171delinsTCCC	ENSP00000355180.3:n.1002+168_1002+171delinsTCCC
ENST00000612273.1:c.1002+168_1002+171delinsTCCC	ENSP00000483630.1:n.1002+168_1002+171delinsTCCC
NM_001848.2:c.1002+168_1002+171delinsTCCC , LRG_475t1:c.1002+168_1002+171delinsTCCC	NP_001839.2:n.1002+168_1002+171delinsTCCC
NM_001848.3:c.1002+168_1002+171delinsTCCC MANE Select	NP_001839.2:n.1002+168_1002+171delinsTCCC