Canonical Allele Identifier: CA1315398432
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994244_188994245delinsGC , CM000664.2:g.188994244_188994245delinsGC GRCh38
NC_000002.11:g.189858970_189858971delinsGC , CM000664.1:g.189858970_189858971delinsGC GRCh37
NC_000002.10:g.189567215_189567216delinsGC NCBI36
NG_007404.1:g.24872_24873delinsGC , LRG_3:g.24872_24873delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1106_1107delinsGC ENSP00000415346.2:p.Gly369=
ENST00000304636.9:c.1205_1206delinsGC MANE Select ENSP00000304408.4:p.Gly402=
ENST00000304636.7:c.1205_1206delinsGC ENSP00000304408.3:p.Gly402=
ENST00000317840.9:c.1205_1206delinsGC ENSP00000315243.6:p.Gly402=
ENST00000450867.1:c.204_205delinsGC
NM_000090.3:c.1205_1206delinsGC , LRG_3t1:c.1205_1206delinsGC NP_000081.1:p.Gly402=
NM_000090.4:c.1205_1206delinsGC MANE Select NP_000081.2:p.Gly402=
Search 100 bp 5'
Search 100 bp 3'