Canonical Allele Identifier: CA2663431923

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311830-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311832del , CM000664.2:g.227311832del	GRCh38
NC_000002.11:g.228176548del , CM000664.1:g.228176548del	GRCh37
NC_000002.10:g.227884792del	NCBI36
NG_011591.1:g.152268del , LRG_230:g.152268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2233del (COL4A3)
ENST00000682257.1:n.197del (COL4A3)
ENST00000682970.1:n.273del (COL4A3)
ENST00000683077.1:n.1914del (COL4A3)
ENST00000684413.1:n.2542del (COL4A3)
ENST00000684724.1:n.396del (COL4A3)
ENST00000396578.8:c.4975del (COL4A3) MANE Select	ENSP00000379823.3:p.Ile1659Ter
ENST00000469504.2:c.768del (COL4A3)	ENSP00000493493.1:n.768del
ENST00000643388.1:c.488del (COL4A3)	ENSP00000495177.1:p.Asn163IlefsTer13
ENST00000396578.7:c.4975del (COL4A3)	ENSP00000379823.3:p.Ile1659Ter
ENST00000469504.1:n.483del (COL4A3)
NM_000091.4:c.4975del , LRG_230t1:c.4975del (COL4A3)	NP_000082.2:p.Ile1659Ter
NR_102371.1:n.48-6176del (MFF-DT)
XM_005246276.2:c.4802del (COL4A3)	XP_005246333.1:p.Asn1601IlefsTer13
XM_005246277.2:c.4870del (COL4A3)	XP_005246334.1:p.Ile1624Ter
XM_011510556.1:c.3736del (COL4A3)	XP_011508858.1:p.Ile1246Ter
XR_241280.2:n.4935del (COL4A3)
XM_005246277.3:c.4870del (COL4A3)	XP_005246334.1:p.Ile1624Ter
XM_011510556.2:c.3736del (COL4A3)	XP_011508858.1:p.Ile1246Ter
XR_241280.3:n.4935del (COL4A3)
NM_000091.5:c.4975del (COL4A3) MANE Select	NP_000082.2:p.Ile1659Ter