Canonical Allele Identifier: CA2542337936
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006303_189006310del , CM000664.2:g.189006303_189006310del GRCh38
NC_000002.11:g.189871029_189871036del , CM000664.1:g.189871029_189871036del GRCh37
NC_000002.10:g.189579274_189579281del NCBI36
NG_007404.1:g.36931_36938del , LRG_3:g.36931_36938del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2995-42_2995-35del ENSP00000415346.2:n.2995-42_2995-35del
ENST00000304636.9:c.3094-42_3094-35del MANE Select ENSP00000304408.4:n.3094-42_3094-35del
ENST00000304636.7:c.3094-42_3094-35del ENSP00000304408.3:n.3094-42_3094-35del
ENST00000317840.9:c.2528-1751_2528-1744del ENSP00000315243.6:n.2528-1751_2528-1744del
NM_000090.3:c.3094-42_3094-35del , LRG_3t1:c.3094-42_3094-35del NP_000081.1:n.3094-42_3094-35del
NM_000090.4:c.3094-42_3094-35del MANE Select NP_000081.2:n.3094-42_3094-35del