Canonical Allele Identifier: CA2818097005

Gene: COL6A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987905_45987906insAAGAGCACACGTCTGAACG , CM000683.2:g.45987905_45987906insAAGAGCACACGTCTGAACG	GRCh38
NC_000021.8:g.47407819_47407820insAAGAGCACACGTCTGAACG , CM000683.1:g.47407819_47407820insAAGAGCACACGTCTGAACG	GRCh37
NC_000021.7:g.46232247_46232248insAAGAGCACACGTCTGAACG	NCBI36
NG_008674.1:g.11157_11158insAAGAGCACACGTCTGAACG , LRG_475:g.11157_11158insAAGAGCACACGTCTGAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+251_804+252insAAGAGCACACGTCTGAACG MANE Select	ENSP00000355180.3:n.804+251_804+252insAAGAGCACACGTCTGAACG
ENST00000361866.7:c.804+251_804+252insAAGAGCACACGTCTGAACG	ENSP00000355180.3:n.804+251_804+252insAAGAGCACACGTCTGAACG
ENST00000612273.1:c.804+251_804+252insAAGAGCACACGTCTGAACG	ENSP00000483630.1:n.804+251_804+252insAAGAGCACACGTCTGAACG
NM_001848.2:c.804+251_804+252insAAGAGCACACGTCTGAACG , LRG_475t1:c.804+251_804+252insAAGAGCACACGTCTGAACG	NP_001839.2:n.804+251_804+252insAAGAGCACACGTCTGAACG
NM_001848.3:c.804+251_804+252insAAGAGCACACGTCTGAACG MANE Select	NP_001839.2:n.804+251_804+252insAAGAGCACACGTCTGAACG