Canonical Allele Identifier: CA2838535625

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192243dup , CM000675.2:g.110192243dup	GRCh38
NC_000013.10:g.110844590dup , CM000675.1:g.110844590dup	GRCh37
NC_000013.9:g.109642591dup	NCBI36
NG_011544.2:g.119908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1508dup MANE Select	ENSP00000364979.4:p.Gly504TrpfsTer29
ENST00000543140.6:c.1508dup	ENSP00000443348.1:p.Gly504TrpfsTer16
ENST00000649738.1:n.1638dup
ENST00000375820.8:c.1508dup	ENSP00000364979.4:p.Gly504TrpfsTer29
ENST00000543140.5:c.1508dup	ENSP00000443348.1:p.Gly504TrpfsTer16
NM_001303110.1:c.1508dup	NP_001290039.1:p.Gly504TrpfsTer16
NM_001845.5:c.1508dup	NP_001836.3:p.Gly504TrpfsTer29
XM_011521048.1:c.1316dup	XP_011519350.1:p.Gly440TrpfsTer29
XM_011521048.2:c.1316dup	XP_011519350.1:p.Gly440TrpfsTer29
NM_001845.6:c.1508dup MANE Select	NP_001836.3:p.Gly504TrpfsTer29
NM_001303110.2:c.1508dup	NP_001290039.1:p.Gly504TrpfsTer16