Canonical Allele Identifier: CA2118736901
Gene: COL4A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173818_110173828delinsTATTCACTGAA , CM000675.2:g.110173818_110173828delinsTATTCACTGAA GRCh38
NC_000013.10:g.110826165_110826175delinsTATTCACTGAA , CM000675.1:g.110826165_110826175delinsTATTCACTGAA GRCh37
NC_000013.9:g.109624166_109624176delinsTATTCACTGAA NCBI36
NG_011544.2:g.138322_138332delinsTTCAGTGAATA

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3505+72_3505+82delinsTTCAGTGAATA MANE Select ENSP00000364979.4:n.3505+72_3505+82delins...
ENST00000375820.8:c.3505+72_3505+82delinsTTCAGTGAATA ENSP00000364979.4:n.3505+72_3505+82delins...
NM_001845.5:c.3505+72_3505+82delinsTTCAGTGAATA NP_001836.3:n.3505+72_3505+82delinsTTCAGT...
XM_011521048.1:c.3313+72_3313+82delinsTTCAGTGAATA XP_011519350.1:n.3313+72_3313+82delinsTTC...
XM_011521048.2:c.3313+72_3313+82delinsTTCAGTGAATA XP_011519350.1:n.3313+72_3313+82delinsTTC...
NM_001845.6:c.3505+72_3505+82delinsTTCAGTGAATA MANE Select NP_001836.3:n.3505+72_3505+82delinsTTCAGT...
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