Canonical Allele Identifier: CA1315400964
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999462_188999464delinsATT , CM000664.2:g.188999462_188999464delinsATT GRCh38
NC_000002.11:g.189864188_189864190delinsATT , CM000664.1:g.189864188_189864190delinsATT GRCh37
NC_000002.10:g.189572433_189572435delinsATT NCBI36
NG_007404.1:g.30090_30092delinsATT , LRG_3:g.30090_30092delinsATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2023-8_2023-6delinsATT ENSP00000415346.2:n.2023-8_2023-6delinsATT
ENST00000304636.9:c.2122-8_2122-6delinsATT MANE Select ENSP00000304408.4:n.2122-8_2122-6delinsATT
ENST00000304636.7:c.2122-8_2122-6delinsATT ENSP00000304408.3:n.2122-8_2122-6delinsATT
ENST00000317840.9:c.2122-8_2122-6delinsATT ENSP00000315243.6:n.2122-8_2122-6delinsATT
NM_000090.3:c.2122-8_2122-6delinsATT , LRG_3t1:c.2122-8_2122-6delinsATT NP_000081.1:n.2122-8_2122-6delinsATT
NM_000090.4:c.2122-8_2122-6delinsATT MANE Select NP_000081.2:n.2122-8_2122-6delinsATT