Canonical Allele Identifier: CA2118732687
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169612_110169617delinsACAAAT , CM000675.2:g.110169612_110169617delinsACAAAT GRCh38
NC_000013.10:g.110821959_110821964delinsACAAAT , CM000675.1:g.110821959_110821964delinsACAAAT GRCh37
NC_000013.9:g.109619960_109619965delinsACAAAT NCBI36
NG_011544.2:g.142533_142538delinsATTTGT

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3876+12_3876+17delinsATTTGT MANE Select ENSP00000364979.4:n.3876+12_3876+17delins...
ENST00000650424.1:c.32+12_32+17delinsATTTGT
ENST00000375820.8:c.3876+12_3876+17delinsATTTGT ENSP00000364979.4:n.3876+12_3876+17delins...
NM_001845.5:c.3876+12_3876+17delinsATTTGT NP_001836.3:n.3876+12_3876+17delinsATTTGT...
XM_011521048.1:c.3684+12_3684+17delinsATTTGT XP_011519350.1:n.3684+12_3684+17delinsATT...
XM_011521048.2:c.3684+12_3684+17delinsATTTGT XP_011519350.1:n.3684+12_3684+17delinsATT...
NM_001845.6:c.3876+12_3876+17delinsATTTGT MANE Select NP_001836.3:n.3876+12_3876+17delinsATTTGT...