Canonical Allele Identifier: CA2729123719
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs2139154237

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169524_110169525insAACA , CM000675.2:g.110169524_110169525insAACA GRCh38
NC_000013.10:g.110821871_110821872insAACA , CM000675.1:g.110821871_110821872insAACA GRCh37
NC_000013.9:g.109619872_109619873insAACA NCBI36
NG_011544.2:g.142628_142629insTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+107_3876+108insTTGT MANE Select ENSP00000364979.4:n.3876+107_3876+108insTTGT
ENST00000650424.1:c.32+107_32+108insTTGT
ENST00000375820.8:c.3876+107_3876+108insTTGT ENSP00000364979.4:n.3876+107_3876+108insTTGT
NM_001845.5:c.3876+107_3876+108insTTGT NP_001836.3:n.3876+107_3876+108insTTGT
XM_011521048.1:c.3684+107_3684+108insTTGT XP_011519350.1:n.3684+107_3684+108insTTGT
XM_011521048.2:c.3684+107_3684+108insTTGT XP_011519350.1:n.3684+107_3684+108insTTGT
NM_001845.6:c.3876+107_3876+108insTTGT MANE Select NP_001836.3:n.3876+107_3876+108insTTGT