Canonical Allele Identifier: CA2663422009

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227290856-A-AGGTACAAGGCCAGGACCACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227290859_227290879dup , CM000664.2:g.227290859_227290879dup	GRCh38
NC_000002.11:g.228155575_228155595dup , CM000664.1:g.228155575_228155595dup	GRCh37
NC_000002.10:g.227863819_227863839dup	NCBI36
NG_011591.1:g.131295_131315dup , LRG_230:g.131295_131315dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.3183_3203dup (COL4A3) MANE Select	ENSP00000379823.3:p.Gly1068_Pro1069insThrArgProGlyProProGly
ENST00000304990.8:c.294_314dup (COL4A3)	ENSP00000302781.8:p.Gly105_Pro106insThrArgProGlyProProGly
ENST00000396578.7:c.3183_3203dup (COL4A3)	ENSP00000379823.3:p.Gly1068_Pro1069insThrArgProGlyProProGly
ENST00000487633.1:n.344_364dup (COL4A3)
NM_000091.4:c.3183_3203dup , LRG_230t1:c.3183_3203dup (COL4A3)	NP_000082.2:p.Gly1068_Pro1069insThrArgProGlyProProGly
NR_102371.1:n.244-9088_244-9068dup (MFF-DT)
XM_005246276.2:c.3183_3203dup (COL4A3)	XP_005246333.1:p.Gly1068_Pro1069insThrArgProGlyProProGly
XM_005246277.2:c.3078_3098dup (COL4A3)	XP_005246334.1:p.Gly1033_Pro1034insThrArgProGlyProProGly
XM_005246280.2:c.3133+50_3133+70dup (COL4A3)	XP_005246337.1:n.3133+50_3133+70dup
XM_006712245.2:c.3183_3203dup (COL4A3)	XP_006712308.1:p.Gly1068_Pro1069insThrArgProGlyProProGly
XM_011510555.1:c.3183_3203dup (COL4A3)	XP_011508857.1:p.Gly1068_Pro1069insThrArgProGlyProProGly
XM_011510556.1:c.1944_1964dup (COL4A3)	XP_011508858.1:p.Gly655_Pro656insThrArgProGlyProProGly
XR_241280.2:n.3321_3341dup (COL4A3)
XM_005246277.3:c.3078_3098dup (COL4A3)	XP_005246334.1:p.Gly1033_Pro1034insThrArgProGlyProProGly
XM_005246280.3:c.3133+50_3133+70dup (COL4A3)	XP_005246337.1:n.3133+50_3133+70dup
XM_006712245.3:c.3183_3203dup (COL4A3)	XP_006712308.1:p.Gly1068_Pro1069insThrArgProGlyProProGly
XM_011510556.2:c.1944_1964dup (COL4A3)	XP_011508858.1:p.Gly655_Pro656insThrArgProGlyProProGly
XM_017003295.1:c.3183_3203dup (COL4A3)	XP_016858784.1:p.Gly1068_Pro1069insThrArgProGlyProProGly
XR_001738601.1:n.3321_3341dup (COL4A3)
XR_241280.3:n.3321_3341dup (COL4A3)
NM_000091.5:c.3183_3203dup (COL4A3) MANE Select	NP_000082.2:p.Gly1068_Pro1069insThrArgProGlyProProGly