Canonical Allele Identifier: CA2623672661
Gene: COL4A1 HGNC NCBI

Linked Data

gnomAD v4: 13-110169504-A-ACACG
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169507_110169508insGCAC , CM000675.2:g.110169507_110169508insGCAC GRCh38
NC_000013.10:g.110821854_110821855insGCAC , CM000675.1:g.110821854_110821855insGCAC GRCh37
NC_000013.9:g.109619855_109619856insGCAC NCBI36
NG_011544.2:g.142645_142646insCGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+124_3876+125insCGTG MANE Select ENSP00000364979.4:n.3876+124_3876+125insCGTG
ENST00000650424.1:c.32+124_32+125insCGTG
ENST00000375820.8:c.3876+124_3876+125insCGTG ENSP00000364979.4:n.3876+124_3876+125insCGTG
NM_001845.5:c.3876+124_3876+125insCGTG NP_001836.3:n.3876+124_3876+125insCGTG
XM_011521048.1:c.3684+124_3684+125insCGTG XP_011519350.1:n.3684+124_3684+125insCGTG
XM_011521048.2:c.3684+124_3684+125insCGTG XP_011519350.1:n.3684+124_3684+125insCGTG
NM_001845.6:c.3876+124_3876+125insCGTG MANE Select NP_001836.3:n.3876+124_3876+125insCGTG
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