Canonical Allele Identifier: CA2118732980

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169919_110170022delinsAGGAAGGAAGGAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTG , CM000675.2:g.110169919_110170022delinsAGGAAGGAAGGAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTG	GRCh38
NC_000013.10:g.110822266_110822369delinsAGGAAGGAAGGAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTG , CM000675.1:g.110822266_110822369delinsAGGAAGGAAGGAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTG	GRCh37
NC_000013.9:g.109620267_109620370delinsAGGAAGGAAGGAGGGAGGGAGGGAGGGAATAGAAACACTACTATCTCTGATAAAACACTGGACCGACAATGTGAACCCTTGAGACAGAAATTGAGGAAGGTCTG	NCBI36
NG_011544.2:g.142128_142231delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT MANE Select	ENSP00000364979.4:n.3743-260_3743-157delinsCAGACCTTCCTCAATTTC...
ENST00000375820.8:c.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT	ENSP00000364979.4:n.3743-260_3743-157delinsCAGACCTTCCTCAATTTC...
NM_001845.5:c.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT	NP_001836.3:n.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTC...
XM_011521048.1:c.3551-260_3551-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT	XP_011519350.1:n.3551-260_3551-157delinsCAGACCTTCCTCAATTTCTGT...
XM_011521048.2:c.3551-260_3551-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT	XP_011519350.1:n.3551-260_3551-157delinsCAGACCTTCCTCAATTTCTGT...
NM_001845.6:c.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTCAAGGGTTCACATTGTCGGTCCAGTGTTTTATCAGAGATAGTAGTGTTTCTATTCCCTCCCTCCCTCCCTCCTTCCTTCCT MANE Select	NP_001836.3:n.3743-260_3743-157delinsCAGACCTTCCTCAATTTCTGTCTC...