Canonical Allele Identifier: CA2392434319

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990584_45990587delinsAGGT , CM000683.2:g.45990584_45990587delinsAGGT	GRCh38
NC_000021.8:g.47410498_47410501delinsAGGT , CM000683.1:g.47410498_47410501delinsAGGT	GRCh37
NC_000021.7:g.46234926_46234929delinsAGGT	NCBI36
NG_008674.1:g.13836_13839delinsAGGT , LRG_475:g.13836_13839delinsAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+162_1002+165delinsAGGT MANE Select	ENSP00000355180.3:n.1002+162_1002+165delinsAGGT
ENST00000361866.7:c.1002+162_1002+165delinsAGGT	ENSP00000355180.3:n.1002+162_1002+165delinsAGGT
ENST00000612273.1:c.1002+162_1002+165delinsAGGT	ENSP00000483630.1:n.1002+162_1002+165delinsAGGT
NM_001848.2:c.1002+162_1002+165delinsAGGT , LRG_475t1:c.1002+162_1002+165delinsAGGT	NP_001839.2:n.1002+162_1002+165delinsAGGT
NM_001848.3:c.1002+162_1002+165delinsAGGT MANE Select	NP_001839.2:n.1002+162_1002+165delinsAGGT