Canonical Allele Identifier: CA2623672687

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169525-C-CACACACACATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169526_110169527insCACACACATATA , CM000675.2:g.110169526_110169527insCACACACATATA	GRCh38
NC_000013.10:g.110821873_110821874insCACACACATATA , CM000675.1:g.110821873_110821874insCACACACATATA	GRCh37
NC_000013.9:g.109619874_109619875insCACACACATATA	NCBI36
NG_011544.2:g.142624_142625insATATGTGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+103_3876+104insATATGTGTGTGT MANE Select	ENSP00000364979.4:n.3876+103_3876+104insATATGTGTGTGT
ENST00000650424.1:c.32+103_32+104insATATGTGTGTGT
ENST00000375820.8:c.3876+103_3876+104insATATGTGTGTGT	ENSP00000364979.4:n.3876+103_3876+104insATATGTGTGTGT
NM_001845.5:c.3876+103_3876+104insATATGTGTGTGT	NP_001836.3:n.3876+103_3876+104insATATGTGTGTGT
XM_011521048.1:c.3684+103_3684+104insATATGTGTGTGT	XP_011519350.1:n.3684+103_3684+104insATATGTGTGTGT
XM_011521048.2:c.3684+103_3684+104insATATGTGTGTGT	XP_011519350.1:n.3684+103_3684+104insATATGTGTGTGT
NM_001845.6:c.3876+103_3876+104insATATGTGTGTGT MANE Select	NP_001836.3:n.3876+103_3876+104insATATGTGTGTGT