Canonical Allele Identifier: CA2842530696

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212586dup , CM000675.2:g.110212586dup	GRCh38
NC_000013.10:g.110864933dup , CM000675.1:g.110864933dup	GRCh37
NC_000013.9:g.109662934dup	NCBI36
NG_011544.2:g.99566dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.314dup MANE Select	ENSP00000364979.4:p.Gly106ArgfsTer?
ENST00000543140.6:c.314dup	ENSP00000443348.1:p.Gly106ArgfsTer?
ENST00000615732.2:c.122dup	ENSP00000478222.2:p.Gly42ArgfsTer?
ENST00000647797.1:c.193dup
ENST00000648170.1:n.193dup
ENST00000648966.1:c.193dup
ENST00000649484.1:c.193dup
ENST00000649738.1:n.444dup
ENST00000650138.1:n.3dup
ENST00000375820.8:c.314dup	ENSP00000364979.4:p.Gly106ArgfsTer?
ENST00000543140.5:c.314dup	ENSP00000443348.1:p.Gly106ArgfsTer?
ENST00000615732.1:c.122dup	ENSP00000478222.1:p.Gly42ArgfsTer?
NM_001303110.1:c.314dup	NP_001290039.1:p.Gly106ArgfsTer?
NM_001845.5:c.314dup	NP_001836.3:p.Gly106ArgfsTer?
XM_011521048.1:c.122dup	XP_011519350.1:p.Gly42ArgfsTer?
XM_011521048.2:c.122dup	XP_011519350.1:p.Gly42ArgfsTer?
NM_001845.6:c.314dup MANE Select	NP_001836.3:p.Gly106ArgfsTer?
NM_001303110.2:c.314dup	NP_001290039.1:p.Gly106ArgfsTer?