Canonical Allele Identifier: CA2529707131
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006314_189006315insCCGG , CM000664.2:g.189006314_189006315insCCGG GRCh38
NC_000002.11:g.189871040_189871041insCCGG , CM000664.1:g.189871040_189871041insCCGG GRCh37
NC_000002.10:g.189579285_189579286insCCGG NCBI36
NG_007404.1:g.36942_36943insCCGG , LRG_3:g.36942_36943insCCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2995-31_2995-30insCCGG ENSP00000415346.2:n.2995-31_2995-30insCCGG
ENST00000304636.9:c.3094-31_3094-30insCCGG MANE Select ENSP00000304408.4:n.3094-31_3094-30insCCGG
ENST00000304636.7:c.3094-31_3094-30insCCGG ENSP00000304408.3:n.3094-31_3094-30insCCGG
ENST00000317840.9:c.2528-1740_2528-1739insCCGG ENSP00000315243.6:n.2528-1740_2528-1739insCCGG
NM_000090.3:c.3094-31_3094-30insCCGG , LRG_3t1:c.3094-31_3094-30insCCGG NP_000081.1:n.3094-31_3094-30insCCGG
NM_000090.4:c.3094-31_3094-30insCCGG MANE Select NP_000081.2:n.3094-31_3094-30insCCGG