Canonical Allele Identifier: CA7047125
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs753843103
ExAC: 13:110821960 CA / C
gnomAD v2: 13-110821960-CA-C
gnomAD v4: 13-110169613-CA-C
MyVariant Identifiers: chr13:g.110821961del (hg19) chr13:g.110169614del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169616del , CM000675.2:g.110169616del GRCh38
NC_000013.10:g.110821963del , CM000675.1:g.110821963del GRCh37
NC_000013.9:g.109619964del NCBI36
NG_011544.2:g.142536del

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3876+15del MANE Select ENSP00000364979.4:n.3876+15del
ENST00000650424.1:c.32+15del
ENST00000375820.8:c.3876+15del ENSP00000364979.4:n.3876+15del
NM_001845.5:c.3876+15del NP_001836.3:n.3876+15del
XM_011521048.1:c.3684+15del XP_011519350.1:n.3684+15del
XM_011521048.2:c.3684+15del XP_011519350.1:n.3684+15del
NM_001845.6:c.3876+15del MANE Select NP_001836.3:n.3876+15del
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