Canonical Allele Identifier: CA1332862002
Gene: COL4A3 HGNC NCBI
MFF-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227309170_227309171delinsGC , CM000664.2:g.227309170_227309171delinsGC GRCh38
NC_000002.11:g.228173886_228173887delinsGC , CM000664.1:g.228173886_228173887delinsGC GRCh37
NC_000002.10:g.227882130_227882131delinsGC NCBI36
NG_011591.1:g.149606_149607delinsGC , LRG_230:g.149606_149607delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000471862.2:n.1899-34_1899-33delinsGC (COL4A3)
ENST00000682257.1:n.2_3delinsGC (COL4A3)
ENST00000683077.1:n.123-34_123-33delinsGC (COL4A3)
ENST00000684413.1:n.2174_2175delinsGC (COL4A3)
ENST00000684724.1:n.43-15_43-14delinsGC (COL4A3)
ENST00000396578.8:c.4641-34_4641-33delinsGC (COL4A3) MANE Select ENSP00000379823.3:n.4641-34_4641-33delinsGC
ENST00000469504.2:c.434-34_434-33delinsGC (COL4A3) ENSP00000493493.1:n.434-34_434-33delinsGC
ENST00000643388.1:c.327-34_327-33delinsGC (COL4A3) ENSP00000495177.1:n.327-34_327-33delinsGC
ENST00000396578.7:c.4641-34_4641-33delinsGC (COL4A3) ENSP00000379823.3:n.4641-34_4641-33delinsGC
ENST00000469504.1:n.149-34_149-33delinsGC (COL4A3)
NM_000091.4:c.4641-34_4641-33delinsGC , LRG_230t1:c.4641-34_4641-33delinsGC (COL4A3) NP_000082.2:n.4641-34_4641-33delinsGC
NR_102371.1:n.48-3516_48-3515delinsGC (MFF-DT)
XM_005246276.2:c.4641-34_4641-33delinsGC (COL4A3) XP_005246333.1:n.4641-34_4641-33delinsGC
XM_005246277.2:c.4536-34_4536-33delinsGC (COL4A3) XP_005246334.1:n.4536-34_4536-33delinsGC
XM_011510555.1:c.4641-34_4641-33delinsGC (COL4A3) XP_011508857.1:n.4641-34_4641-33delinsGC
XM_011510556.1:c.3402-34_3402-33delinsGC (COL4A3) XP_011508858.1:n.3402-34_3402-33delinsGC
XR_241280.2:n.4601-34_4601-33delinsGC (COL4A3)
XM_005246277.3:c.4536-34_4536-33delinsGC (COL4A3) XP_005246334.1:n.4536-34_4536-33delinsGC
XM_011510556.2:c.3402-34_3402-33delinsGC (COL4A3) XP_011508858.1:n.3402-34_3402-33delinsGC
XR_241280.3:n.4601-34_4601-33delinsGC (COL4A3)
NM_000091.5:c.4641-34_4641-33delinsGC (COL4A3) MANE Select NP_000082.2:n.4641-34_4641-33delinsGC