Canonical Allele Identifier: CA960159615
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1877496958
gnomAD v3: 13-110169373-ATGG-A
gnomAD v4: 13-110169373-ATGG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169375_110169377del , CM000675.2:g.110169375_110169377del GRCh38
NC_000013.10:g.110821722_110821724del , CM000675.1:g.110821722_110821724del GRCh37
NC_000013.9:g.109619723_109619725del NCBI36
NG_011544.2:g.142774_142776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+253_3876+255del MANE Select ENSP00000364979.4:n.3876+253_3876+255del
ENST00000650424.1:c.32+253_32+255del
ENST00000375820.8:c.3876+253_3876+255del ENSP00000364979.4:n.3876+253_3876+255del
NM_001845.5:c.3876+253_3876+255del NP_001836.3:n.3876+253_3876+255del
XM_011521048.1:c.3684+253_3684+255del XP_011519350.1:n.3684+253_3684+255del
XM_011521048.2:c.3684+253_3684+255del XP_011519350.1:n.3684+253_3684+255del
NM_001845.6:c.3876+253_3876+255del MANE Select NP_001836.3:n.3876+253_3876+255del
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