Canonical Allele Identifier: CA2118732590

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169521_110169527delinsCACACAT , CM000675.2:g.110169521_110169527delinsCACACAT	GRCh38
NC_000013.10:g.110821868_110821874delinsCACACAT , CM000675.1:g.110821868_110821874delinsCACACAT	GRCh37
NC_000013.9:g.109619869_109619875delinsCACACAT	NCBI36
NG_011544.2:g.142623_142629delinsATGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+102_3876+108delinsATGTGTG MANE Select	ENSP00000364979.4:n.3876+102_3876+108delinsATGTGTG
ENST00000650424.1:c.32+102_32+108delinsATGTGTG
ENST00000375820.8:c.3876+102_3876+108delinsATGTGTG	ENSP00000364979.4:n.3876+102_3876+108delinsATGTGTG
NM_001845.5:c.3876+102_3876+108delinsATGTGTG	NP_001836.3:n.3876+102_3876+108delinsATGTGTG
XM_011521048.1:c.3684+102_3684+108delinsATGTGTG	XP_011519350.1:n.3684+102_3684+108delinsATGTGTG
XM_011521048.2:c.3684+102_3684+108delinsATGTGTG	XP_011519350.1:n.3684+102_3684+108delinsATGTGTG
NM_001845.6:c.3876+102_3876+108delinsATGTGTG MANE Select	NP_001836.3:n.3876+102_3876+108delinsATGTGTG