Canonical Allele Identifier: CA2663417180

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227246719-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227246722del , CM000664.2:g.227246722del	GRCh38
NC_000002.11:g.228111438del , CM000664.1:g.228111438del	GRCh37
NC_000002.10:g.227819682del	NCBI36
NG_011591.1:g.87158del , LRG_230:g.87158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.425del (COL4A3) MANE Select	ENSP00000379823.3:p.Gly142AlafsTer11
ENST00000396578.7:c.425del (COL4A3)	ENSP00000379823.3:p.Gly142AlafsTer11
NM_000091.4:c.425del , LRG_230t1:c.425del (COL4A3)	NP_000082.2:p.Gly142AlafsTer11
NR_102371.1:n.1593-8546del (MFF-DT)
XM_005246276.2:c.425del (COL4A3)	XP_005246333.1:p.Gly142AlafsTer11
XM_005246277.2:c.425del (COL4A3)	XP_005246334.1:p.Gly142AlafsTer11
XM_005246280.2:c.425del (COL4A3)	XP_005246337.1:p.Gly142AlafsTer11
XM_006712245.2:c.425del (COL4A3)	XP_006712308.1:p.Gly142AlafsTer11
XM_011510555.1:c.425del (COL4A3)	XP_011508857.1:p.Gly142AlafsTer11
XR_241280.2:n.563del (COL4A3)
XM_005246277.3:c.425del (COL4A3)	XP_005246334.1:p.Gly142AlafsTer11
XM_005246280.3:c.425del (COL4A3)	XP_005246337.1:p.Gly142AlafsTer11
XM_006712245.3:c.425del (COL4A3)	XP_006712308.1:p.Gly142AlafsTer11
XM_017003295.1:c.425del (COL4A3)	XP_016858784.1:p.Gly142AlafsTer11
XR_001738601.1:n.563del (COL4A3)
XR_241280.3:n.563del (COL4A3)
NM_000091.5:c.425del (COL4A3) MANE Select	NP_000082.2:p.Gly142AlafsTer11