Canonical Allele Identifier: CA2654957195

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987791-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987791_45987792insC , CM000683.2:g.45987791_45987792insC	GRCh38
NC_000021.8:g.47407705_47407706insC , CM000683.1:g.47407705_47407706insC	GRCh37
NC_000021.7:g.46232133_46232134insC	NCBI36
NG_008674.1:g.11043_11044insC , LRG_475:g.11043_11044insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+137_804+138insC MANE Select	ENSP00000355180.3:n.804+137_804+138insC
ENST00000361866.7:c.804+137_804+138insC	ENSP00000355180.3:n.804+137_804+138insC
ENST00000612273.1:c.804+137_804+138insC	ENSP00000483630.1:n.804+137_804+138insC
NM_001848.2:c.804+137_804+138insC , LRG_475t1:c.804+137_804+138insC	NP_001839.2:n.804+137_804+138insC
NM_001848.3:c.804+137_804+138insC MANE Select	NP_001839.2:n.804+137_804+138insC