Canonical Allele Identifier: CA1315403106
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004197_189004198delinsAT , CM000664.2:g.189004197_189004198delinsAT GRCh38
NC_000002.11:g.189868923_189868924delinsAT , CM000664.1:g.189868923_189868924delinsAT GRCh37
NC_000002.10:g.189577168_189577169delinsAT NCBI36
NG_007404.1:g.34825_34826delinsAT , LRG_3:g.34825_34826delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2724+54_2724+55delinsAT ENSP00000415346.2:n.2724+54_2724+55delinsAT
ENST00000304636.9:c.2823+54_2823+55delinsAT MANE Select ENSP00000304408.4:n.2823+54_2823+55delinsAT
ENST00000304636.7:c.2823+54_2823+55delinsAT ENSP00000304408.3:n.2823+54_2823+55delinsAT
ENST00000317840.9:c.2527+1161_2527+1162delinsAT ENSP00000315243.6:n.2527+1161_2527+1162delinsAT
NM_000090.3:c.2823+54_2823+55delinsAT , LRG_3t1:c.2823+54_2823+55delinsAT NP_000081.1:n.2823+54_2823+55delinsAT
NM_000090.4:c.2823+54_2823+55delinsAT MANE Select NP_000081.2:n.2823+54_2823+55delinsAT