Canonical Allele Identifier: CA695031561
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1408070156
gnomAD v3: 13-110169396-T-TA
gnomAD v4: 13-110169396-T-TA
MyVariant Identifiers: chr13:g.110821743_110821744insA (hg19) chr13:g.110169396_110169397insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169403dup , CM000675.2:g.110169403dup GRCh38
NC_000013.10:g.110821750dup , CM000675.1:g.110821750dup GRCh37
NC_000013.9:g.109619751dup NCBI36
NG_011544.2:g.142753dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+232dup MANE Select ENSP00000364979.4:n.3876+232dup
ENST00000650424.1:c.32+232dup
ENST00000375820.8:c.3876+232dup ENSP00000364979.4:n.3876+232dup
NM_001845.5:c.3876+232dup NP_001836.3:n.3876+232dup
XM_011521048.1:c.3684+232dup XP_011519350.1:n.3684+232dup
XM_011521048.2:c.3684+232dup XP_011519350.1:n.3684+232dup
NM_001845.6:c.3876+232dup MANE Select NP_001836.3:n.3876+232dup
Search 100 bp 5'
Search 100 bp 3'