Canonical Allele Identifier: CA2654957190

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45987790-G-GGGGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987793_45987794insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG , CM000683.2:g.45987793_45987794insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	GRCh38
NC_000021.8:g.47407707_47407708insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG , CM000683.1:g.47407707_47407708insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	GRCh37
NC_000021.7:g.46232135_46232136insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	NCBI36
NG_008674.1:g.11045_11046insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG , LRG_475:g.11045_11046insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG MANE Select	ENSP00000355180.3:n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGG...
ENST00000361866.7:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	ENSP00000355180.3:n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGG...
ENST00000612273.1:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	ENSP00000483630.1:n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGG...
NM_001848.2:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG , LRG_475t1:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG	NP_001839.2:n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGA...
NM_001848.3:c.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGG MANE Select	NP_001839.2:n.804+139_804+140insTCCAGATGGAGGGGACGGCGTGGTCCAGA...