Canonical Allele Identifier: CA2392434335

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990595_45990597delinsGCA , CM000683.2:g.45990595_45990597delinsGCA	GRCh38
NC_000021.8:g.47410509_47410511delinsGCA , CM000683.1:g.47410509_47410511delinsGCA	GRCh37
NC_000021.7:g.46234937_46234939delinsGCA	NCBI36
NG_008674.1:g.13847_13849delinsGCA , LRG_475:g.13847_13849delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+173_1003-176delinsGCA MANE Select	ENSP00000355180.3:n.1002+173_1003-176delinsGCA
ENST00000361866.7:c.1002+173_1003-176delinsGCA	ENSP00000355180.3:n.1002+173_1003-176delinsGCA
ENST00000612273.1:c.1002+173_1003-176delinsGCA	ENSP00000483630.1:n.1002+173_1003-176delinsGCA
NM_001848.2:c.1002+173_1003-176delinsGCA , LRG_475t1:c.1002+173_1003-176delinsGCA	NP_001839.2:n.1002+173_1003-176delinsGCA
NM_001848.3:c.1002+173_1003-176delinsGCA MANE Select	NP_001839.2:n.1002+173_1003-176delinsGCA