Canonical Allele Identifier: CA2573135454

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227263891del , CM000664.2:g.227263891del	GRCh38
NC_000002.11:g.228128607del , CM000664.1:g.228128607del	GRCh37
NC_000002.10:g.227836851del	NCBI36
NG_011591.1:g.104327del , LRG_230:g.104327del

Transcript Alleles

HGVS	Amino-acid Change
NM_000091.5:c.1262del (COL4A3) MANE Select	NP_000082.2:p.Gly421ValfsTer?
ENST00000396578.8:c.1262del (COL4A3) MANE Select	ENSP00000379823.3:p.Gly421ValfsTer?
NM_000091.4:c.1262del , LRG_230t1:c.1262del (COL4A3)	NP_000082.2:p.Gly421ValfsTer?
NR_102371.1:n.1486+779del (MFF-DT)
ENST00000396578.7:c.1262del (COL4A3)	ENSP00000379823.3:p.Gly421ValfsTer?
XM_005246276.2:c.1262del (COL4A3)	XP_005246333.1:p.Gly421ValfsTer?
XM_005246277.2:c.1262del (COL4A3)	XP_005246334.1:p.Gly421ValfsTer?
XM_005246277.3:c.1262del (COL4A3)	XP_005246334.1:p.Gly421ValfsTer?
XM_005246280.2:c.1262del (COL4A3)	XP_005246337.1:p.Gly421ValfsTer?
XM_005246280.3:c.1262del (COL4A3)	XP_005246337.1:p.Gly421ValfsTer?
XM_006712245.2:c.1262del (COL4A3)	XP_006712308.1:p.Gly421ValfsTer?
XM_006712245.3:c.1262del (COL4A3)	XP_006712308.1:p.Gly421ValfsTer?
XM_011510555.1:c.1262del (COL4A3)	XP_011508857.1:p.Gly421ValfsTer?
XM_011510556.1:c.23del (COL4A3)	XP_011508858.1:p.Gly8ValfsTer?
XM_011510556.2:c.23del (COL4A3)	XP_011508858.1:p.Gly8ValfsTer?
XM_017003295.1:c.1262del (COL4A3)	XP_016858784.1:p.Gly421ValfsTer?
XR_001738601.1:n.1400del (COL4A3)
XR_241280.2:n.1400del (COL4A3)
XR_241280.3:n.1400del (COL4A3)