Canonical Allele Identifier: CA2663432070

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227312144-GCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312145_227312147del , CM000664.2:g.227312145_227312147del	GRCh38
NC_000002.11:g.228176861_228176863del , CM000664.1:g.228176861_228176863del	GRCh37
NC_000002.10:g.227885105_227885107del	NCBI36
NG_011591.1:g.152581_152583del , LRG_230:g.152581_152583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2546_2548del (COL4A3)
ENST00000682257.1:n.510_512del (COL4A3)
ENST00000682970.1:n.586_588del (COL4A3)
ENST00000683077.1:n.2227_2229del (COL4A3)
ENST00000684413.1:n.2855_2857del (COL4A3)
ENST00000684724.1:n.709_711del (COL4A3)
ENST00000396578.8:c.*275_*277del (COL4A3) MANE Select	ENSP00000379823.3:n.*275_*277del
ENST00000396578.7:c.*275_*277del (COL4A3)	ENSP00000379823.3:n.*275_*277del
NM_000091.4:c.*275_*277del , LRG_230t1:c.*275_*277del (COL4A3)	NP_000082.2:n.*275_*277del
NR_102371.1:n.48-6492_48-6490del (MFF-DT)
XM_005246276.2:c.*201_*203del (COL4A3)	XP_005246333.1:n.*201_*203del
XM_005246277.2:c.*275_*277del (COL4A3)	XP_005246334.1:n.*275_*277del
XM_011510556.1:c.*275_*277del (COL4A3)	XP_011508858.1:n.*275_*277del
XR_241280.2:n.5248_5250del (COL4A3)
XM_005246277.3:c.*275_*277del (COL4A3)	XP_005246334.1:n.*275_*277del
XM_011510556.2:c.*275_*277del (COL4A3)	XP_011508858.1:n.*275_*277del
XR_241280.3:n.5248_5250del (COL4A3)
NM_000091.5:c.*275_*277del (COL4A3) MANE Select	NP_000082.2:n.*275_*277del