Canonical Allele Identifier: CA2663431509

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227308901-ACTCTTGGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308904_227308913del , CM000664.2:g.227308904_227308913del	GRCh38
NC_000002.11:g.228173620_228173629del , CM000664.1:g.228173620_228173629del	GRCh37
NC_000002.10:g.227881864_227881873del	NCBI36
NG_011591.1:g.149340_149349del , LRG_230:g.149340_149349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.1726_1735del (COL4A3)
ENST00000684413.1:n.1908_1917del (COL4A3)
ENST00000396578.8:c.4468_4477del (COL4A3) MANE Select	ENSP00000379823.3:p.Leu1490AlafsTer?
ENST00000469504.2:c.434-300_434-291del (COL4A3)	ENSP00000493493.1:n.434-300_434-291del
ENST00000643388.1:c.154_163del (COL4A3)	ENSP00000495177.1:p.Leu52AlafsTer?
ENST00000396578.7:c.4468_4477del (COL4A3)	ENSP00000379823.3:p.Leu1490AlafsTer?
ENST00000469504.1:n.149-300_149-291del (COL4A3)
NM_000091.4:c.4468_4477del , LRG_230t1:c.4468_4477del (COL4A3)	NP_000082.2:p.Leu1490AlafsTer?
NR_102371.1:n.48-3256_48-3247del (MFF-DT)
XM_005246276.2:c.4468_4477del (COL4A3)	XP_005246333.1:p.Leu1490AlafsTer?
XM_005246277.2:c.4363_4372del (COL4A3)	XP_005246334.1:p.Leu1455AlafsTer?
XM_011510555.1:c.4468_4477del (COL4A3)	XP_011508857.1:p.Leu1490AlafsTer?
XM_011510556.1:c.3229_3238del (COL4A3)	XP_011508858.1:p.Leu1077AlafsTer?
XR_241280.2:n.4601-300_4601-291del (COL4A3)
XM_005246277.3:c.4363_4372del (COL4A3)	XP_005246334.1:p.Leu1455AlafsTer?
XM_011510556.2:c.3229_3238del (COL4A3)	XP_011508858.1:p.Leu1077AlafsTer?
XR_241280.3:n.4601-300_4601-291del (COL4A3)
NM_000091.5:c.4468_4477del (COL4A3) MANE Select	NP_000082.2:p.Leu1490AlafsTer?