Canonical Allele Identifier: CA2118732340

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169307_110169309delinsGTT , CM000675.2:g.110169307_110169309delinsGTT	GRCh38
NC_000013.10:g.110821654_110821656delinsGTT , CM000675.1:g.110821654_110821656delinsGTT	GRCh37
NC_000013.9:g.109619655_109619657delinsGTT	NCBI36
NG_011544.2:g.142841_142843delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+320_3876+322delinsAAC MANE Select	ENSP00000364979.4:n.3876+320_3876+322delinsAAC
ENST00000650424.1:c.32+320_32+322delinsAAC
ENST00000375820.8:c.3876+320_3876+322delinsAAC	ENSP00000364979.4:n.3876+320_3876+322delinsAAC
NM_001845.5:c.3876+320_3876+322delinsAAC	NP_001836.3:n.3876+320_3876+322delinsAAC
XM_011521048.1:c.3684+320_3684+322delinsAAC	XP_011519350.1:n.3684+320_3684+322delinsAAC
XM_011521048.2:c.3684+320_3684+322delinsAAC	XP_011519350.1:n.3684+320_3684+322delinsAAC
NM_001845.6:c.3876+320_3876+322delinsAAC MANE Select	NP_001836.3:n.3876+320_3876+322delinsAAC