Canonical Allele Identifier: CA1315402451
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189002827_189002828delinsGC , CM000664.2:g.189002827_189002828delinsGC GRCh38
NC_000002.11:g.189867553_189867554delinsGC , CM000664.1:g.189867553_189867554delinsGC GRCh37
NC_000002.10:g.189575798_189575799delinsGC NCBI36
NG_007404.1:g.33455_33456delinsGC , LRG_3:g.33455_33456delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2347-128_2347-127delinsGC ENSP00000415346.2:n.2347-128_2347-127delinsGC
ENST00000304636.9:c.2446-128_2446-127delinsGC MANE Select ENSP00000304408.4:n.2446-128_2446-127delinsGC
ENST00000304636.7:c.2446-128_2446-127delinsGC ENSP00000304408.3:n.2446-128_2446-127delinsGC
ENST00000317840.9:c.2446-128_2446-127delinsGC ENSP00000315243.6:n.2446-128_2446-127delinsGC
NM_000090.3:c.2446-128_2446-127delinsGC , LRG_3t1:c.2446-128_2446-127delinsGC NP_000081.1:n.2446-128_2446-127delinsGC
NM_000090.4:c.2446-128_2446-127delinsGC MANE Select NP_000081.2:n.2446-128_2446-127delinsGC