Canonical Allele Identifier: CA2118732621

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169546_110169554delinsTACATACAC , CM000675.2:g.110169546_110169554delinsTACATACAC	GRCh38
NC_000013.10:g.110821893_110821901delinsTACATACAC , CM000675.1:g.110821893_110821901delinsTACATACAC	GRCh37
NC_000013.9:g.109619894_109619902delinsTACATACAC	NCBI36
NG_011544.2:g.142596_142604delinsGTGTATGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+75_3876+83delinsGTGTATGTA MANE Select	ENSP00000364979.4:n.3876+75_3876+83delinsGTGTATGTA
ENST00000650424.1:c.32+75_32+83delinsGTGTATGTA
ENST00000375820.8:c.3876+75_3876+83delinsGTGTATGTA	ENSP00000364979.4:n.3876+75_3876+83delinsGTGTATGTA
NM_001845.5:c.3876+75_3876+83delinsGTGTATGTA	NP_001836.3:n.3876+75_3876+83delinsGTGTATGTA
XM_011521048.1:c.3684+75_3684+83delinsGTGTATGTA	XP_011519350.1:n.3684+75_3684+83delinsGTGTATGTA
XM_011521048.2:c.3684+75_3684+83delinsGTGTATGTA	XP_011519350.1:n.3684+75_3684+83delinsGTGTATGTA
NM_001845.6:c.3876+75_3876+83delinsGTGTATGTA MANE Select	NP_001836.3:n.3876+75_3876+83delinsGTGTATGTA