Canonical Allele Identifier: CA2663431457
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227308781del , CM000664.2:g.227308781del GRCh38
NC_000002.11:g.228173497del , CM000664.1:g.228173497del GRCh37
NC_000002.10:g.227881741del NCBI36
NG_011591.1:g.149217del , LRG_230:g.149217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1721-118del (COL4A3)
ENST00000684413.1:n.1785del (COL4A3)
ENST00000396578.8:c.4463-118del (COL4A3) MANE Select ENSP00000379823.3:n.4463-118del
ENST00000469504.2:c.434-423del (COL4A3) ENSP00000493493.1:n.434-423del
ENST00000643388.1:c.149-118del (COL4A3) ENSP00000495177.1:n.149-118del
ENST00000396578.7:c.4463-118del (COL4A3) ENSP00000379823.3:n.4463-118del
ENST00000469504.1:n.149-423del (COL4A3)
NM_000091.4:c.4463-118del , LRG_230t1:c.4463-118del (COL4A3) NP_000082.2:n.4463-118del
NR_102371.1:n.48-3123del (MFF-DT)
XM_005246276.2:c.4463-118del (COL4A3) XP_005246333.1:n.4463-118del
XM_005246277.2:c.4358-118del (COL4A3) XP_005246334.1:n.4358-118del
XM_011510555.1:c.4463-118del (COL4A3) XP_011508857.1:n.4463-118del
XM_011510556.1:c.3224-118del (COL4A3) XP_011508858.1:n.3224-118del
XR_241280.2:n.4601-423del (COL4A3)
XM_005246277.3:c.4358-118del (COL4A3) XP_005246334.1:n.4358-118del
XM_011510556.2:c.3224-118del (COL4A3) XP_011508858.1:n.3224-118del
XR_241280.3:n.4601-423del (COL4A3)
NM_000091.5:c.4463-118del (COL4A3) MANE Select NP_000082.2:n.4463-118del