Canonical Allele Identifier: CA256250646
Gene: COL4A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1241679
ClinVar RCV Id: RCV001645424
dbSNP Id: rs3832901
gnomAD v2: 13-110821844-A-AACAC
gnomAD v3: 13-110169497-A-AACAC
gnomAD v4: 13-110169497-A-AACAC
MyVariant Identifiers: chr13:g.110821844_110821845insACAC (hg19) chr13:g.110169497_110169498insACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169523_110169526dup , CM000675.2:g.110169523_110169526dup GRCh38
NC_000013.10:g.110821870_110821873dup , CM000675.1:g.110821870_110821873dup GRCh37
NC_000013.9:g.109619871_109619874dup NCBI36
NG_011544.2:g.142649_142652dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+128_3876+131dup MANE Select ENSP00000364979.4:n.3876+128_3876+131dup
ENST00000650424.1:c.32+128_32+131dup
ENST00000375820.8:c.3876+128_3876+131dup ENSP00000364979.4:n.3876+128_3876+131dup
NM_001845.5:c.3876+128_3876+131dup NP_001836.3:n.3876+128_3876+131dup
XM_011521048.1:c.3684+128_3684+131dup XP_011519350.1:n.3684+128_3684+131dup
XM_011521048.2:c.3684+128_3684+131dup XP_011519350.1:n.3684+128_3684+131dup
NM_001845.6:c.3876+128_3876+131dup MANE Select NP_001836.3:n.3876+128_3876+131dup
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Search 100 bp 3'