Canonical Allele Identifier: CA2392432264

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987794_45987795delinsGT , CM000683.2:g.45987794_45987795delinsGT	GRCh38
NC_000021.8:g.47407708_47407709delinsGT , CM000683.1:g.47407708_47407709delinsGT	GRCh37
NC_000021.7:g.46232136_46232137delinsGT	NCBI36
NG_008674.1:g.11046_11047delinsGT , LRG_475:g.11046_11047delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+140_804+141delinsGT MANE Select	ENSP00000355180.3:n.804+140_804+141delinsGT
ENST00000361866.7:c.804+140_804+141delinsGT	ENSP00000355180.3:n.804+140_804+141delinsGT
ENST00000612273.1:c.804+140_804+141delinsGT	ENSP00000483630.1:n.804+140_804+141delinsGT
NM_001848.2:c.804+140_804+141delinsGT , LRG_475t1:c.804+140_804+141delinsGT	NP_001839.2:n.804+140_804+141delinsGT
NM_001848.3:c.804+140_804+141delinsGT MANE Select	NP_001839.2:n.804+140_804+141delinsGT