Canonical Allele Identifier: CA1043065931

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v3: 2-227311953-CT-C
• gnomAD v4: 2-227311953-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311956del , CM000664.2:g.227311956del	GRCh38
NC_000002.11:g.228176672del , CM000664.1:g.228176672del	GRCh37
NC_000002.10:g.227884916del	NCBI36
NG_011591.1:g.152392del , LRG_230:g.152392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2357del (COL4A3)
ENST00000682257.1:n.321del (COL4A3)
ENST00000682970.1:n.397del (COL4A3)
ENST00000683077.1:n.2038del (COL4A3)
ENST00000684413.1:n.2666del (COL4A3)
ENST00000684724.1:n.520del (COL4A3)
ENST00000396578.8:c.*86del (COL4A3) MANE Select	ENSP00000379823.3:n.*86del
ENST00000396578.7:c.*86del (COL4A3)	ENSP00000379823.3:n.*86del
NM_000091.4:c.*86del , LRG_230t1:c.*86del (COL4A3)	NP_000082.2:n.*86del
NR_102371.1:n.48-6299del (MFF-DT)
XM_005246276.2:c.*12del (COL4A3)	XP_005246333.1:n.*12del
XM_005246277.2:c.*86del (COL4A3)	XP_005246334.1:n.*86del
XM_011510556.1:c.*86del (COL4A3)	XP_011508858.1:n.*86del
XR_241280.2:n.5059del (COL4A3)
XM_005246277.3:c.*86del (COL4A3)	XP_005246334.1:n.*86del
XM_011510556.2:c.*86del (COL4A3)	XP_011508858.1:n.*86del
XR_241280.3:n.5059del (COL4A3)
NM_000091.5:c.*86del (COL4A3) MANE Select	NP_000082.2:n.*86del