Canonical Allele Identifier: CA512711301

Gene: COL6A1

Linked Data

• dbSNP Id: rs1569517967
• gnomAD v4: 21-45987790-G-GGGGTCCAGATGGAGGGGACGGC
• MyVariant Identifiers: chr21:g.47407704_47407705insGGGTCCAGATGGAGGGGACGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987793_45987794insTCCAGATGGAGGGGACGGCGGG , CM000683.2:g.45987793_45987794insTCCAGATGGAGGGGACGGCGGG	GRCh38
NC_000021.8:g.47407707_47407708insTCCAGATGGAGGGGACGGCGGG , CM000683.1:g.47407707_47407708insTCCAGATGGAGGGGACGGCGGG	GRCh37
NC_000021.7:g.46232135_46232136insTCCAGATGGAGGGGACGGCGGG	NCBI36
NG_008674.1:g.11045_11046insTCCAGATGGAGGGGACGGCGGG , LRG_475:g.11045_11046insTCCAGATGGAGGGGACGGCGGG

Transcript Alleles

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