Canonical Allele Identifier: CA612622931
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v2: 13-110822265-A-AAGGAAGGAAGGAGGGAGGGAGGG
gnomAD v3: 13-110169918-A-AAGGAAGGAAGGAGGGAGGGAGGG
gnomAD v4: 13-110169918-A-AAGGAAGGAAGGAGGGAGGGAGGG
MyVariant Identifiers: chr13:g.110822265_110822266insAGGAAGGAAGGAGGGAGGGAGGG (hg19) chr13:g.110169918_110169919insAGGAAGGAAGGAGGGAGGGAGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169922_110169944dup , CM000675.2:g.110169922_110169944dup GRCh38
NC_000013.10:g.110822269_110822291dup , CM000675.1:g.110822269_110822291dup GRCh37
NC_000013.9:g.109620270_109620292dup NCBI36
NG_011544.2:g.142209_142231dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-179_3743-157dup MANE Select ENSP00000364979.4:n.3743-179_3743-157dup
ENST00000375820.8:c.3743-179_3743-157dup ENSP00000364979.4:n.3743-179_3743-157dup
NM_001845.5:c.3743-179_3743-157dup NP_001836.3:n.3743-179_3743-157dup
XM_011521048.1:c.3551-179_3551-157dup XP_011519350.1:n.3551-179_3551-157dup
XM_011521048.2:c.3551-179_3551-157dup XP_011519350.1:n.3551-179_3551-157dup
NM_001845.6:c.3743-179_3743-157dup MANE Select NP_001836.3:n.3743-179_3743-157dup
Search 100 bp 5'
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