Canonical Allele Identifier: CA2753572094
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993820del , CM000664.2:g.188993820del GRCh38
NC_000002.11:g.189858546del , CM000664.1:g.189858546del GRCh37
NC_000002.10:g.189566791del NCBI36
NG_007404.1:g.24448del , LRG_3:g.24448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-218del ENSP00000415346.2:n.1051-218del
ENST00000304636.9:c.1150-218del MANE Select ENSP00000304408.4:n.1150-218del
ENST00000304636.7:c.1150-218del ENSP00000304408.3:n.1150-218del
ENST00000317840.9:c.1150-218del ENSP00000315243.6:n.1150-218del
ENST00000450867.1:c.149-218del
NM_000090.3:c.1150-218del , LRG_3t1:c.1150-218del NP_000081.1:n.1150-218del
NM_000090.4:c.1150-218del MANE Select NP_000081.2:n.1150-218del