Canonical Allele Identifier: CA2118732998

Gene: COL4A1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169924_110169927delinsGGAA , CM000675.2:g.110169924_110169927delinsGGAA	GRCh38
NC_000013.10:g.110822271_110822274delinsGGAA , CM000675.1:g.110822271_110822274delinsGGAA	GRCh37
NC_000013.9:g.109620272_109620275delinsGGAA	NCBI36
NG_011544.2:g.142223_142226delinsTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-165_3743-162delinsTTCC MANE Select	ENSP00000364979.4:n.3743-165_3743-162delinsTTCC
ENST00000375820.8:c.3743-165_3743-162delinsTTCC	ENSP00000364979.4:n.3743-165_3743-162delinsTTCC
NM_001845.5:c.3743-165_3743-162delinsTTCC	NP_001836.3:n.3743-165_3743-162delinsTTCC
XM_011521048.1:c.3551-165_3551-162delinsTTCC	XP_011519350.1:n.3551-165_3551-162delinsTTCC
XM_011521048.2:c.3551-165_3551-162delinsTTCC	XP_011519350.1:n.3551-165_3551-162delinsTTCC
NM_001845.6:c.3743-165_3743-162delinsTTCC MANE Select	NP_001836.3:n.3743-165_3743-162delinsTTCC