Canonical Allele Identifier: CA2586965508
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994032_188994036delinsTG , CM000664.2:g.188994032_188994036delinsTG GRCh38
NC_000002.11:g.189858758_189858762delinsTG , CM000664.1:g.189858758_189858762delinsTG GRCh37
NC_000002.10:g.189567003_189567007delinsTG NCBI36
NG_007404.1:g.24660_24664delinsTG , LRG_3:g.24660_24664delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-6_1051-2delinsTG ENSP00000415346.2:n.1051-6_1051-2delinsTG
ENST00000304636.9:c.1150-6_1150-2delinsTG MANE Select ENSP00000304408.4:n.1150-6_1150-2delinsTG
ENST00000304636.7:c.1150-6_1150-2delinsTG ENSP00000304408.3:n.1150-6_1150-2delinsTG
ENST00000317840.9:c.1150-6_1150-2delinsTG ENSP00000315243.6:n.1150-6_1150-2delinsTG
ENST00000450867.1:c.149-6_149-2delinsTG
NM_000090.3:c.1150-6_1150-2delinsTG , LRG_3t1:c.1150-6_1150-2delinsTG NP_000081.1:n.1150-6_1150-2delinsTG
NM_000090.4:c.1150-6_1150-2delinsTG MANE Select NP_000081.2:n.1150-6_1150-2delinsTG