Canonical Allele Identifier: CA2654957146

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987766-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987767_45987768insCG , CM000683.2:g.45987767_45987768insCG	GRCh38
NC_000021.8:g.47407681_47407682insCG , CM000683.1:g.47407681_47407682insCG	GRCh37
NC_000021.7:g.46232109_46232110insCG	NCBI36
NG_008674.1:g.11019_11020insCG , LRG_475:g.11019_11020insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+113_804+114insCG MANE Select	ENSP00000355180.3:n.804+113_804+114insCG
ENST00000361866.7:c.804+113_804+114insCG	ENSP00000355180.3:n.804+113_804+114insCG
ENST00000612273.1:c.804+113_804+114insCG	ENSP00000483630.1:n.804+113_804+114insCG
NM_001848.2:c.804+113_804+114insCG , LRG_475t1:c.804+113_804+114insCG	NP_001839.2:n.804+113_804+114insCG
NM_001848.3:c.804+113_804+114insCG MANE Select	NP_001839.2:n.804+113_804+114insCG