Canonical Allele Identifier: CA7047123
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2867635
ClinVar RCV Id: RCV003702849
dbSNP Id: rs763911036
ExAC: 13:110821959 ACAAAT / A
gnomAD v2: 13-110821959-ACAAAT-A
gnomAD v3: 13-110169612-ACAAAT-A
gnomAD v4: 13-110169612-ACAAAT-A
MyVariant Identifiers: chr13:g.110821960_110821964del (hg19) chr13:g.110169614_110169618del (hg38) chr13:g.110169613_110169617del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169616_110169620del , CM000675.2:g.110169616_110169620del GRCh38
NC_000013.10:g.110821963_110821967del , CM000675.1:g.110821963_110821967del GRCh37
NC_000013.9:g.109619964_109619968del NCBI36
NG_011544.2:g.142533_142537del

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3876+12_3876+16del MANE Select ENSP00000364979.4:n.3876+12_3876+16del
ENST00000650424.1:c.32+12_32+16del
ENST00000375820.8:c.3876+12_3876+16del ENSP00000364979.4:n.3876+12_3876+16del
NM_001845.5:c.3876+12_3876+16del NP_001836.3:n.3876+12_3876+16del
XM_011521048.1:c.3684+12_3684+16del XP_011519350.1:n.3684+12_3684+16del
XM_011521048.2:c.3684+12_3684+16del XP_011519350.1:n.3684+12_3684+16del
NM_001845.6:c.3876+12_3876+16del MANE Select NP_001836.3:n.3876+12_3876+16del
Search 100 bp 5'
Search 100 bp 3'