Canonical Allele Identifier: CA2586971593

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227266424_227266425insA , CM000664.2:g.227266424_227266425insA	GRCh38
NC_000002.11:g.228131140_228131141insA , CM000664.1:g.228131140_228131141insA	GRCh37
NC_000002.10:g.227839384_227839385insA	NCBI36
NG_011591.1:g.106860_106861insA , LRG_230:g.106860_106861insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.1323_1324insA (COL4A3) MANE Select	ENSP00000379823.3:p.Val442SerfsTer25
ENST00000396578.7:c.1323_1324insA (COL4A3)	ENSP00000379823.3:p.Val442SerfsTer25
NM_000091.4:c.1323_1324insA , LRG_230t1:c.1323_1324insA (COL4A3)	NP_000082.2:p.Val442SerfsTer25
NR_102371.1:n.656-490_656-489insT (MFF-DT)
XM_005246276.2:c.1323_1324insA (COL4A3)	XP_005246333.1:p.Val442SerfsTer25
XM_005246277.2:c.1323_1324insA (COL4A3)	XP_005246334.1:p.Val442SerfsTer25
XM_005246280.2:c.1323_1324insA (COL4A3)	XP_005246337.1:p.Val442SerfsTer25
XM_006712245.2:c.1323_1324insA (COL4A3)	XP_006712308.1:p.Val442SerfsTer25
XM_011510555.1:c.1323_1324insA (COL4A3)	XP_011508857.1:p.Val442SerfsTer25
XM_011510556.1:c.84_85insA (COL4A3)	XP_011508858.1:p.Val29SerfsTer25
XR_241280.2:n.1461_1462insA (COL4A3)
XM_005246277.3:c.1323_1324insA (COL4A3)	XP_005246334.1:p.Val442SerfsTer25
XM_005246280.3:c.1323_1324insA (COL4A3)	XP_005246337.1:p.Val442SerfsTer25
XM_006712245.3:c.1323_1324insA (COL4A3)	XP_006712308.1:p.Val442SerfsTer25
XM_011510556.2:c.84_85insA (COL4A3)	XP_011508858.1:p.Val29SerfsTer25
XM_017003295.1:c.1323_1324insA (COL4A3)	XP_016858784.1:p.Val442SerfsTer25
XR_001738601.1:n.1461_1462insA (COL4A3)
XR_241280.3:n.1461_1462insA (COL4A3)
NM_000091.5:c.1323_1324insA (COL4A3) MANE Select	NP_000082.2:p.Val442SerfsTer25