Canonical Allele Identifier: CA2623672674
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169516_110169517insAA , CM000675.2:g.110169516_110169517insAA GRCh38
NC_000013.10:g.110821863_110821864insAA , CM000675.1:g.110821863_110821864insAA GRCh37
NC_000013.9:g.109619864_109619865insAA NCBI36
NG_011544.2:g.142634_142635insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+113_3876+114insTT MANE Select ENSP00000364979.4:n.3876+113_3876+114insTT
ENST00000650424.1:c.32+113_32+114insTT
ENST00000375820.8:c.3876+113_3876+114insTT ENSP00000364979.4:n.3876+113_3876+114insTT
NM_001845.5:c.3876+113_3876+114insTT NP_001836.3:n.3876+113_3876+114insTT
XM_011521048.1:c.3684+113_3684+114insTT XP_011519350.1:n.3684+113_3684+114insTT
XM_011521048.2:c.3684+113_3684+114insTT XP_011519350.1:n.3684+113_3684+114insTT
NM_001845.6:c.3876+113_3876+114insTT MANE Select NP_001836.3:n.3876+113_3876+114insTT