Canonical Allele Identifier: CA2118732268

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169221_110169224delinsGTCC , CM000675.2:g.110169221_110169224delinsGTCC	GRCh38
NC_000013.10:g.110821568_110821571delinsGTCC , CM000675.1:g.110821568_110821571delinsGTCC	GRCh37
NC_000013.9:g.109619569_109619572delinsGTCC	NCBI36
NG_011544.2:g.142926_142929delinsGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+405_3876+408delinsGGAC MANE Select	ENSP00000364979.4:n.3876+405_3876+408delinsGGAC
ENST00000650424.1:c.32+405_32+408delinsGGAC
ENST00000375820.8:c.3876+405_3876+408delinsGGAC	ENSP00000364979.4:n.3876+405_3876+408delinsGGAC
NM_001845.5:c.3876+405_3876+408delinsGGAC	NP_001836.3:n.3876+405_3876+408delinsGGAC
XM_011521048.1:c.3684+405_3684+408delinsGGAC	XP_011519350.1:n.3684+405_3684+408delinsGGAC
XM_011521048.2:c.3684+405_3684+408delinsGGAC	XP_011519350.1:n.3684+405_3684+408delinsGGAC
NM_001845.6:c.3876+405_3876+408delinsGGAC MANE Select	NP_001836.3:n.3876+405_3876+408delinsGGAC