Canonical Allele Identifier: CA1332863183

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227312187_227312194delinsTTATGAAA , CM000664.2:g.227312187_227312194delinsTTATGAAA	GRCh38
NC_000002.11:g.228176903_228176910delinsTTATGAAA , CM000664.1:g.228176903_228176910delinsTTATGAAA	GRCh37
NC_000002.10:g.227885147_227885154delinsTTATGAAA	NCBI36
NG_011591.1:g.152623_152630delinsTTATGAAA , LRG_230:g.152623_152630delinsTTATGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471862.2:n.2588_2595delinsTTATGAAA (COL4A3)
ENST00000682257.1:n.552_559delinsTTATGAAA (COL4A3)
ENST00000682970.1:n.628_635delinsTTATGAAA (COL4A3)
ENST00000683077.1:n.2269_2276delinsTTATGAAA (COL4A3)
ENST00000684413.1:n.2897_2904delinsTTATGAAA (COL4A3)
ENST00000684724.1:n.751_758delinsTTATGAAA (COL4A3)
ENST00000396578.8:c.*317_*324delinsTTATGAAA (COL4A3) MANE Select	ENSP00000379823.3:n.*317_*324delinsTTATGAAA
ENST00000396578.7:c.*317_*324delinsTTATGAAA (COL4A3)	ENSP00000379823.3:n.*317_*324delinsTTATGAAA
NM_000091.4:c.*317_*324delinsTTATGAAA , LRG_230t1:c.*317_*324delinsTTATGAAA (COL4A3)	NP_000082.2:n.*317_*324delinsTTATGAAA
NR_102371.1:n.48-6539_48-6532delinsTTTCATAA (MFF-DT)
XM_005246276.2:c.*243_*250delinsTTATGAAA (COL4A3)	XP_005246333.1:n.*243_*250delinsTTATGAAA
XM_005246277.2:c.*317_*324delinsTTATGAAA (COL4A3)	XP_005246334.1:n.*317_*324delinsTTATGAAA
XM_011510556.1:c.*317_*324delinsTTATGAAA (COL4A3)	XP_011508858.1:n.*317_*324delinsTTATGAAA
XR_241280.2:n.5290_5297delinsTTATGAAA (COL4A3)
XM_005246277.3:c.*317_*324delinsTTATGAAA (COL4A3)	XP_005246334.1:n.*317_*324delinsTTATGAAA
XM_011510556.2:c.*317_*324delinsTTATGAAA (COL4A3)	XP_011508858.1:n.*317_*324delinsTTATGAAA
XR_241280.3:n.5290_5297delinsTTATGAAA (COL4A3)
NM_000091.5:c.*317_*324delinsTTATGAAA (COL4A3) MANE Select	NP_000082.2:n.*317_*324delinsTTATGAAA