Canonical Allele Identifier: CA1315398405
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994195_188994196delinsTC , CM000664.2:g.188994195_188994196delinsTC GRCh38
NC_000002.11:g.189858921_189858922delinsTC , CM000664.1:g.189858921_189858922delinsTC GRCh37
NC_000002.10:g.189567166_189567167delinsTC NCBI36
NG_007404.1:g.24823_24824delinsTC , LRG_3:g.24823_24824delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1096-39_1096-38delinsTC ENSP00000415346.2:n.1096-39_1096-38delinsTC
ENST00000304636.9:c.1195-39_1195-38delinsTC MANE Select ENSP00000304408.4:n.1195-39_1195-38delinsTC
ENST00000304636.7:c.1195-39_1195-38delinsTC ENSP00000304408.3:n.1195-39_1195-38delinsTC
ENST00000317840.9:c.1195-39_1195-38delinsTC ENSP00000315243.6:n.1195-39_1195-38delinsTC
ENST00000450867.1:c.194-39_194-38delinsTC
NM_000090.3:c.1195-39_1195-38delinsTC , LRG_3t1:c.1195-39_1195-38delinsTC NP_000081.1:n.1195-39_1195-38delinsTC
NM_000090.4:c.1195-39_1195-38delinsTC MANE Select NP_000081.2:n.1195-39_1195-38delinsTC