Canonical Allele Identifier: CA920320835

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517967

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987793_45987794insTCCAGATGGGGGGGGCGGCGGG , CM000683.2:g.45987793_45987794insTCCAGATGGGGGGGGCGGCGGG	GRCh38
NC_000021.8:g.47407707_47407708insTCCAGATGGGGGGGGCGGCGGG , CM000683.1:g.47407707_47407708insTCCAGATGGGGGGGGCGGCGGG	GRCh37
NC_000021.7:g.46232135_46232136insTCCAGATGGGGGGGGCGGCGGG	NCBI36
NG_008674.1:g.11045_11046insTCCAGATGGGGGGGGCGGCGGG , LRG_475:g.11045_11046insTCCAGATGGGGGGGGCGGCGGG

Transcript Alleles

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