Canonical Allele Identifier: CA2577264986

Gene: COL4A3 MFF-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227272982_227272993del , CM000664.2:g.227272982_227272993del	GRCh38
NC_000002.11:g.228137698_228137709del , CM000664.1:g.228137698_228137709del	GRCh37
NC_000002.10:g.227845942_227845953del	NCBI36
NG_011591.1:g.113418_113429del , LRG_230:g.113418_113429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396578.8:c.1792_1803del (COL4A3) MANE Select	ENSP00000379823.3:p.Pro598_Pro601del
ENST00000396578.7:c.1792_1803del (COL4A3)	ENSP00000379823.3:p.Pro598_Pro601del
NM_000091.4:c.1792_1803del , LRG_230t1:c.1792_1803del (COL4A3)	NP_000082.2:p.Pro598_Pro601del
NR_102371.1:n.423-4220_423-4209del (MFF-DT)
XM_005246276.2:c.1792_1803del (COL4A3)	XP_005246333.1:p.Pro598_Pro601del
XM_005246277.2:c.1792_1803del (COL4A3)	XP_005246334.1:p.Pro598_Pro601del
XM_005246280.2:c.1792_1803del (COL4A3)	XP_005246337.1:p.Pro598_Pro601del
XM_006712245.2:c.1792_1803del (COL4A3)	XP_006712308.1:p.Pro598_Pro601del
XM_011510555.1:c.1792_1803del (COL4A3)	XP_011508857.1:p.Pro598_Pro601del
XM_011510556.1:c.553_564del (COL4A3)	XP_011508858.1:p.Pro185_Pro188del
XR_241280.2:n.1930_1941del (COL4A3)
XM_005246277.3:c.1792_1803del (COL4A3)	XP_005246334.1:p.Pro598_Pro601del
XM_005246280.3:c.1792_1803del (COL4A3)	XP_005246337.1:p.Pro598_Pro601del
XM_006712245.3:c.1792_1803del (COL4A3)	XP_006712308.1:p.Pro598_Pro601del
XM_011510556.2:c.553_564del (COL4A3)	XP_011508858.1:p.Pro185_Pro188del
XM_017003295.1:c.1792_1803del (COL4A3)	XP_016858784.1:p.Pro598_Pro601del
XR_001738601.1:n.1930_1941del (COL4A3)
XR_241280.3:n.1930_1941del (COL4A3)
NM_000091.5:c.1792_1803del (COL4A3) MANE Select	NP_000082.2:p.Pro598_Pro601del