Canonical Allele Identifier: CA2800580984

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169511_110169512insCCCAAACACACCCA , CM000675.2:g.110169511_110169512insCCCAAACACACCCA	GRCh38
NC_000013.10:g.110821858_110821859insCCCAAACACACCCA , CM000675.1:g.110821858_110821859insCCCAAACACACCCA	GRCh37
NC_000013.9:g.109619859_109619860insCCCAAACACACCCA	NCBI36
NG_011544.2:g.142638_142639insTGGGTGTGTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+117_3876+118insTGGGTGTGTTTGGG MANE Select	ENSP00000364979.4:n.3876+117_3876+118insTGGGTGTGTTTGGG
ENST00000650424.1:c.32+117_32+118insTGGGTGTGTTTGGG
ENST00000375820.8:c.3876+117_3876+118insTGGGTGTGTTTGGG	ENSP00000364979.4:n.3876+117_3876+118insTGGGTGTGTTTGGG
NM_001845.5:c.3876+117_3876+118insTGGGTGTGTTTGGG	NP_001836.3:n.3876+117_3876+118insTGGGTGTGTTTGGG
XM_011521048.1:c.3684+117_3684+118insTGGGTGTGTTTGGG	XP_011519350.1:n.3684+117_3684+118insTGGGTGTGTTTGGG
XM_011521048.2:c.3684+117_3684+118insTGGGTGTGTTTGGG	XP_011519350.1:n.3684+117_3684+118insTGGGTGTGTTTGGG
NM_001845.6:c.3876+117_3876+118insTGGGTGTGTTTGGG MANE Select	NP_001836.3:n.3876+117_3876+118insTGGGTGTGTTTGGG