Canonical Allele Identifier: CA256250987
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs891772866
gnomAD v2: 13-110822281-A-AG
gnomAD v3: 13-110169934-A-AG
gnomAD v4: 13-110169934-A-AG
MyVariant Identifiers: chr13:g.110822281_110822282insG (hg19) chr13:g.110169934_110169935insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169937dup , CM000675.2:g.110169937dup GRCh38
NC_000013.10:g.110822284dup , CM000675.1:g.110822284dup GRCh37
NC_000013.9:g.109620285dup NCBI36
NG_011544.2:g.142215dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-173dup MANE Select ENSP00000364979.4:n.3743-173dup
ENST00000375820.8:c.3743-173dup ENSP00000364979.4:n.3743-173dup
NM_001845.5:c.3743-173dup NP_001836.3:n.3743-173dup
XM_011521048.1:c.3551-173dup XP_011519350.1:n.3551-173dup
XM_011521048.2:c.3551-173dup XP_011519350.1:n.3551-173dup
NM_001845.6:c.3743-173dup MANE Select NP_001836.3:n.3743-173dup
Search 100 bp 5'
Search 100 bp 3'