Canonical Allele Identifier: CA2118732588

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169517_110169527delinsCACACACACAT , CM000675.2:g.110169517_110169527delinsCACACACACAT	GRCh38
NC_000013.10:g.110821864_110821874delinsCACACACACAT , CM000675.1:g.110821864_110821874delinsCACACACACAT	GRCh37
NC_000013.9:g.109619865_109619875delinsCACACACACAT	NCBI36
NG_011544.2:g.142623_142633delinsATGTGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+102_3876+112delinsATGTGTGTGTG MANE Select	ENSP00000364979.4:n.3876+102_3876+112delinsATGTGTGTGTG
ENST00000650424.1:c.32+102_32+112delinsATGTGTGTGTG
ENST00000375820.8:c.3876+102_3876+112delinsATGTGTGTGTG	ENSP00000364979.4:n.3876+102_3876+112delinsATGTGTGTGTG
NM_001845.5:c.3876+102_3876+112delinsATGTGTGTGTG	NP_001836.3:n.3876+102_3876+112delinsATGTGTGTGTG
XM_011521048.1:c.3684+102_3684+112delinsATGTGTGTGTG	XP_011519350.1:n.3684+102_3684+112delinsATGTGTGTGTG
XM_011521048.2:c.3684+102_3684+112delinsATGTGTGTGTG	XP_011519350.1:n.3684+102_3684+112delinsATGTGTGTGTG
NM_001845.6:c.3876+102_3876+112delinsATGTGTGTGTG MANE Select	NP_001836.3:n.3876+102_3876+112delinsATGTGTGTGTG