Canonical Allele Identifier: CA2118733169

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170022_110170026delinsGGGAA , CM000675.2:g.110170022_110170026delinsGGGAA	GRCh38
NC_000013.10:g.110822369_110822373delinsGGGAA , CM000675.1:g.110822369_110822373delinsGGGAA	GRCh37
NC_000013.9:g.109620370_109620374delinsGGGAA	NCBI36
NG_011544.2:g.142124_142128delinsTTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-264_3743-260delinsTTCCC MANE Select	ENSP00000364979.4:n.3743-264_3743-260delinsTTCCC
ENST00000375820.8:c.3743-264_3743-260delinsTTCCC	ENSP00000364979.4:n.3743-264_3743-260delinsTTCCC
NM_001845.5:c.3743-264_3743-260delinsTTCCC	NP_001836.3:n.3743-264_3743-260delinsTTCCC
XM_011521048.1:c.3551-264_3551-260delinsTTCCC	XP_011519350.1:n.3551-264_3551-260delinsTTCCC
XM_011521048.2:c.3551-264_3551-260delinsTTCCC	XP_011519350.1:n.3551-264_3551-260delinsTTCCC
NM_001845.6:c.3743-264_3743-260delinsTTCCC MANE Select	NP_001836.3:n.3743-264_3743-260delinsTTCCC