Canonical Allele Identifier: CA2663431921

Gene: COL4A3 MFF-DT

Linked Data

• gnomAD v4: 2-227311769-GTTTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227311773_227311778del , CM000664.2:g.227311773_227311778del	GRCh38
NC_000002.11:g.228176489_228176494del , CM000664.1:g.228176489_228176494del	GRCh37
NC_000002.10:g.227884733_227884738del	NCBI36
NG_011591.1:g.152209_152214del , LRG_230:g.152209_152214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2187-13_2187-8del (COL4A3)
ENST00000682257.1:n.151-13_151-8del (COL4A3)
ENST00000682970.1:n.227-13_227-8del (COL4A3)
ENST00000683077.1:n.1868-13_1868-8del (COL4A3)
ENST00000684413.1:n.2496-13_2496-8del (COL4A3)
ENST00000684724.1:n.350-13_350-8del (COL4A3)
ENST00000396578.8:c.4929-13_4929-8del (COL4A3) MANE Select	ENSP00000379823.3:n.4929-13_4929-8del
ENST00000469504.2:c.722-13_722-8del (COL4A3)	ENSP00000493493.1:n.722-13_722-8del
ENST00000643388.1:c.442-13_442-8del (COL4A3)	ENSP00000495177.1:n.442-13_442-8del
ENST00000396578.7:c.4929-13_4929-8del (COL4A3)	ENSP00000379823.3:n.4929-13_4929-8del
ENST00000469504.1:n.437-13_437-8del (COL4A3)
NM_000091.4:c.4929-13_4929-8del , LRG_230t1:c.4929-13_4929-8del (COL4A3)	NP_000082.2:n.4929-13_4929-8del
NR_102371.1:n.48-6120_48-6115del (MFF-DT)
XM_005246276.2:c.4756-13_4756-8del (COL4A3)	XP_005246333.1:n.4756-13_4756-8del
XM_005246277.2:c.4824-13_4824-8del (COL4A3)	XP_005246334.1:n.4824-13_4824-8del
XM_011510556.1:c.3690-13_3690-8del (COL4A3)	XP_011508858.1:n.3690-13_3690-8del
XR_241280.2:n.4889-13_4889-8del (COL4A3)
XM_005246277.3:c.4824-13_4824-8del (COL4A3)	XP_005246334.1:n.4824-13_4824-8del
XM_011510556.2:c.3690-13_3690-8del (COL4A3)	XP_011508858.1:n.3690-13_3690-8del
XR_241280.3:n.4889-13_4889-8del (COL4A3)
NM_000091.5:c.4929-13_4929-8del (COL4A3) MANE Select	NP_000082.2:n.4929-13_4929-8del