Canonical Allele Identifier: CA2654957138

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987766-G-GGGGGTCCAGATGGTGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987779_45987780insTGGGGACGGCGGGGTCCAGATGG , CM000683.2:g.45987779_45987780insTGGGGACGGCGGGGTCCAGATGG	GRCh38
NC_000021.8:g.47407693_47407694insTGGGGACGGCGGGGTCCAGATGG , CM000683.1:g.47407693_47407694insTGGGGACGGCGGGGTCCAGATGG	GRCh37
NC_000021.7:g.46232121_46232122insTGGGGACGGCGGGGTCCAGATGG	NCBI36
NG_008674.1:g.11031_11032insTGGGGACGGCGGGGTCCAGATGG , LRG_475:g.11031_11032insTGGGGACGGCGGGGTCCAGATGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG MANE Select	ENSP00000355180.3:n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG...
ENST00000361866.7:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG	ENSP00000355180.3:n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG...
ENST00000612273.1:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG	ENSP00000483630.1:n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG...
NM_001848.2:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG , LRG_475t1:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG	NP_001839.2:n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG
NM_001848.3:c.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG MANE Select	NP_001839.2:n.804+125_804+126insTGGGGACGGCGGGGTCCAGATGG