Canonical Allele Identifier: CA1315396842
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991717_188991718delinsGC , CM000664.2:g.188991717_188991718delinsGC GRCh38
NC_000002.11:g.189856443_189856444delinsGC , CM000664.1:g.189856443_189856444delinsGC GRCh37
NC_000002.10:g.189564688_189564689delinsGC NCBI36
NG_007404.1:g.22345_22346delinsGC , LRG_3:g.22345_22346delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.946_947delinsGC ENSP00000415346.2:p.Ala316=
ENST00000304636.9:c.946_947delinsGC MANE Select ENSP00000304408.4:p.Ala316=
ENST00000304636.7:c.946_947delinsGC ENSP00000304408.3:p.Ala316=
ENST00000317840.9:c.946_947delinsGC ENSP00000315243.6:p.Ala316=
ENST00000450867.1:c.44_45delinsGC
NM_000090.3:c.946_947delinsGC , LRG_3t1:c.946_947delinsGC NP_000081.1:p.Ala316=
NM_000090.4:c.946_947delinsGC MANE Select NP_000081.2:p.Ala316=
Search 100 bp 5'
Search 100 bp 3'