Canonical Allele Identifier: CA2118732613

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169533_110169542delinsTACATACACA , CM000675.2:g.110169533_110169542delinsTACATACACA	GRCh38
NC_000013.10:g.110821880_110821889delinsTACATACACA , CM000675.1:g.110821880_110821889delinsTACATACACA	GRCh37
NC_000013.9:g.109619881_109619890delinsTACATACACA	NCBI36
NG_011544.2:g.142608_142617delinsTGTGTATGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+87_3876+96delinsTGTGTATGTA MANE Select	ENSP00000364979.4:n.3876+87_3876+96delinsTGTGTATGTA
ENST00000650424.1:c.32+87_32+96delinsTGTGTATGTA
ENST00000375820.8:c.3876+87_3876+96delinsTGTGTATGTA	ENSP00000364979.4:n.3876+87_3876+96delinsTGTGTATGTA
NM_001845.5:c.3876+87_3876+96delinsTGTGTATGTA	NP_001836.3:n.3876+87_3876+96delinsTGTGTATGTA
XM_011521048.1:c.3684+87_3684+96delinsTGTGTATGTA	XP_011519350.1:n.3684+87_3684+96delinsTGTGTATGTA
XM_011521048.2:c.3684+87_3684+96delinsTGTGTATGTA	XP_011519350.1:n.3684+87_3684+96delinsTGTGTATGTA
NM_001845.6:c.3876+87_3876+96delinsTGTGTATGTA MANE Select	NP_001836.3:n.3876+87_3876+96delinsTGTGTATGTA