Canonical Allele Identifier: CA66623488

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs865781644
• gnomAD v3: 2-227311827-AAAT-A
• gnomAD v4: 2-227311827-AAAT-A
• MyVariant Identifiers: chr2:g.228176544_228176546del (hg19) ; chr2:g.227311829_227311831del (hg38) ; chr2:g.227311828_227311830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311833_227311835del , CM000664.2:g.227311833_227311835del	GRCh38
NC_000002.11:g.228176549_228176551del , CM000664.1:g.228176549_228176551del	GRCh37
NC_000002.10:g.227884793_227884795del	NCBI36
NG_011591.1:g.152269_152271del , LRG_230:g.152269_152271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2234_2236del (COL4A3)
ENST00000682257.1:n.198_200del (COL4A3)
ENST00000682970.1:n.274_276del (COL4A3)
ENST00000683077.1:n.1915_1917del (COL4A3)
ENST00000684413.1:n.2543_2545del (COL4A3)
ENST00000684724.1:n.397_399del (COL4A3)
ENST00000396578.8:c.4976_4978del (COL4A3) MANE Select	ENSP00000379823.3:p.Ile1659del
ENST00000469504.2:c.769_771del (COL4A3)	ENSP00000493493.1:n.769_771del
ENST00000643388.1:c.489_491del (COL4A3)	ENSP00000495177.1:p.Asn163del
ENST00000396578.7:c.4976_4978del (COL4A3)	ENSP00000379823.3:p.Ile1659del
ENST00000469504.1:n.484_486del (COL4A3)
NM_000091.4:c.4976_4978del , LRG_230t1:c.4976_4978del (COL4A3)	NP_000082.2:p.Ile1659del
NR_102371.1:n.48-6175_48-6173del (MFF-DT)
XM_005246276.2:c.4803_4805del (COL4A3)	XP_005246333.1:p.Asn1601del
XM_005246277.2:c.4871_4873del (COL4A3)	XP_005246334.1:p.Ile1624del
XM_011510556.1:c.3737_3739del (COL4A3)	XP_011508858.1:p.Ile1246del
XR_241280.2:n.4936_4938del (COL4A3)
XM_005246277.3:c.4871_4873del (COL4A3)	XP_005246334.1:p.Ile1624del
XM_011510556.2:c.3737_3739del (COL4A3)	XP_011508858.1:p.Ile1246del
XR_241280.3:n.4936_4938del (COL4A3)
NM_000091.5:c.4976_4978del (COL4A3) MANE Select	NP_000082.2:p.Ile1659del