Canonical Allele Identifier: CA1315398236
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993811_188993815delinsTTATG , CM000664.2:g.188993811_188993815delinsTTATG GRCh38
NC_000002.11:g.189858537_189858541delinsTTATG , CM000664.1:g.189858537_189858541delinsTTATG GRCh37
NC_000002.10:g.189566782_189566786delinsTTATG NCBI36
NG_007404.1:g.24439_24443delinsTTATG , LRG_3:g.24439_24443delinsTTATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-227_1051-223delinsTTATG ENSP00000415346.2:n.1051-227_1051-223delinsTTATG
ENST00000304636.9:c.1150-227_1150-223delinsTTATG MANE Select ENSP00000304408.4:n.1150-227_1150-223delinsTTATG
ENST00000304636.7:c.1150-227_1150-223delinsTTATG ENSP00000304408.3:n.1150-227_1150-223delinsTTATG
ENST00000317840.9:c.1150-227_1150-223delinsTTATG ENSP00000315243.6:n.1150-227_1150-223delinsTTATG
ENST00000450867.1:c.149-227_149-223delinsTTATG
NM_000090.3:c.1150-227_1150-223delinsTTATG , LRG_3t1:c.1150-227_1150-223delinsTTATG NP_000081.1:n.1150-227_1150-223delinsTTATG
NM_000090.4:c.1150-227_1150-223delinsTTATG MANE Select NP_000081.2:n.1150-227_1150-223delinsTTATG