Canonical Allele Identifier: CA1315402700
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003292_189003293delinsCA , CM000664.2:g.189003292_189003293delinsCA GRCh38
NC_000002.11:g.189868018_189868019delinsCA , CM000664.1:g.189868018_189868019delinsCA GRCh37
NC_000002.10:g.189576263_189576264delinsCA NCBI36
NG_007404.1:g.33920_33921delinsCA , LRG_3:g.33920_33921delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2455-119_2455-118delinsCA ENSP00000415346.2:n.2455-119_2455-118delinsCA
ENST00000304636.9:c.2554-119_2554-118delinsCA MANE Select ENSP00000304408.4:n.2554-119_2554-118delinsCA
ENST00000304636.7:c.2554-119_2554-118delinsCA ENSP00000304408.3:n.2554-119_2554-118delinsCA
ENST00000317840.9:c.2527+256_2527+257delinsCA ENSP00000315243.6:n.2527+256_2527+257delinsCA
NM_000090.3:c.2554-119_2554-118delinsCA , LRG_3t1:c.2554-119_2554-118delinsCA NP_000081.1:n.2554-119_2554-118delinsCA
NM_000090.4:c.2554-119_2554-118delinsCA MANE Select NP_000081.2:n.2554-119_2554-118delinsCA