Canonical Allele Identifier: CA1315399561
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996512_188996513insC , CM000664.2:g.188996512_188996513insC GRCh38
NC_000002.11:g.189861238_189861239insC , CM000664.1:g.189861238_189861239insC GRCh37
NC_000002.10:g.189569483_189569484insC NCBI36
NG_007404.1:g.27140_27141insC , LRG_3:g.27140_27141insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1662+16_1662+17insC ENSP00000415346.2:n.1662+16_1662+17insC
ENST00000304636.9:c.1761+16_1761+17insC MANE Select ENSP00000304408.4:n.1761+16_1761+17insC
ENST00000304636.7:c.1761+16_1761+17insC ENSP00000304408.3:n.1761+16_1761+17insC
ENST00000317840.9:c.1761+16_1761+17insC ENSP00000315243.6:n.1761+16_1761+17insC
NM_000090.3:c.1761+16_1761+17insC , LRG_3t1:c.1761+16_1761+17insC NP_000081.1:n.1761+16_1761+17insC
NM_000090.4:c.1761+16_1761+17insC MANE Select NP_000081.2:n.1761+16_1761+17insC