Canonical Allele Identifier: CA2800580976

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169502_110169503insGACA , CM000675.2:g.110169502_110169503insGACA	GRCh38
NC_000013.10:g.110821849_110821850insGACA , CM000675.1:g.110821849_110821850insGACA	GRCh37
NC_000013.9:g.109619850_109619851insGACA	NCBI36
NG_011544.2:g.142650_142651insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+129_3876+130insCTGT MANE Select	ENSP00000364979.4:n.3876+129_3876+130insCTGT
ENST00000650424.1:c.32+129_32+130insCTGT
ENST00000375820.8:c.3876+129_3876+130insCTGT	ENSP00000364979.4:n.3876+129_3876+130insCTGT
NM_001845.5:c.3876+129_3876+130insCTGT	NP_001836.3:n.3876+129_3876+130insCTGT
XM_011521048.1:c.3684+129_3684+130insCTGT	XP_011519350.1:n.3684+129_3684+130insCTGT
XM_011521048.2:c.3684+129_3684+130insCTGT	XP_011519350.1:n.3684+129_3684+130insCTGT
NM_001845.6:c.3876+129_3876+130insCTGT MANE Select	NP_001836.3:n.3876+129_3876+130insCTGT