Canonical Allele Identifier: CA1315402979
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003872_189003873delinsTA , CM000664.2:g.189003872_189003873delinsTA GRCh38
NC_000002.11:g.189868598_189868599delinsTA , CM000664.1:g.189868598_189868599delinsTA GRCh37
NC_000002.10:g.189576843_189576844delinsTA NCBI36
NG_007404.1:g.34500_34501delinsTA , LRG_3:g.34500_34501delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2562+85_2562+86delinsTA ENSP00000415346.2:n.2562+85_2562+86delinsTA
ENST00000304636.9:c.2661+85_2661+86delinsTA MANE Select ENSP00000304408.4:n.2661+85_2661+86delinsTA
ENST00000304636.7:c.2661+85_2661+86delinsTA ENSP00000304408.3:n.2661+85_2661+86delinsTA
ENST00000317840.9:c.2527+836_2527+837delinsTA ENSP00000315243.6:n.2527+836_2527+837delinsTA
ENST00000467886.1:n.181_182delinsTA
NM_000090.3:c.2661+85_2661+86delinsTA , LRG_3t1:c.2661+85_2661+86delinsTA NP_000081.1:n.2661+85_2661+86delinsTA
NM_000090.4:c.2661+85_2661+86delinsTA MANE Select NP_000081.2:n.2661+85_2661+86delinsTA