Canonical Allele Identifier: CA2497029956

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987789_45987790delinsCG , CM000683.2:g.45987789_45987790delinsCG	GRCh38
NC_000021.8:g.47407703_47407704delinsCG , CM000683.1:g.47407703_47407704delinsCG	GRCh37
NC_000021.7:g.46232131_46232132delinsCG	NCBI36
NG_008674.1:g.11041_11042delinsCG , LRG_475:g.11041_11042delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+135_804+136delinsCG MANE Select	ENSP00000355180.3:n.804+135_804+136delinsCG
ENST00000361866.7:c.804+135_804+136delinsCG	ENSP00000355180.3:n.804+135_804+136delinsCG
ENST00000612273.1:c.804+135_804+136delinsCG	ENSP00000483630.1:n.804+135_804+136delinsCG
NM_001848.2:c.804+135_804+136delinsCG , LRG_475t1:c.804+135_804+136delinsCG	NP_001839.2:n.804+135_804+136delinsCG
NM_001848.3:c.804+135_804+136delinsCG MANE Select	NP_001839.2:n.804+135_804+136delinsCG