Canonical Allele Identifier: CA1315405476
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008925_189008926delinsGC , CM000664.2:g.189008925_189008926delinsGC GRCh38
NC_000002.11:g.189873651_189873652delinsGC , CM000664.1:g.189873651_189873652delinsGC GRCh37
NC_000002.10:g.189581896_189581897delinsGC NCBI36
NG_007404.1:g.39553_39554delinsGC , LRG_3:g.39553_39554delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3428_3429delinsGC ENSP00000415346.2:p.Gly1143=
ENST00000304636.9:c.3527_3528delinsGC MANE Select ENSP00000304408.4:p.Gly1176=
ENST00000304636.7:c.3527_3528delinsGC ENSP00000304408.3:p.Gly1176=
ENST00000317840.9:c.2618_2619delinsGC ENSP00000315243.6:p.Gly873=
ENST00000487010.1:n.624_625delinsGC
NM_000090.3:c.3527_3528delinsGC , LRG_3t1:c.3527_3528delinsGC NP_000081.1:p.Gly1176=
NM_000090.4:c.3527_3528delinsGC MANE Select NP_000081.2:p.Gly1176=
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