Canonical Allele Identifier: CA612623444
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1479711063
gnomAD v2: 13-110822743-TG-T
gnomAD v3: 13-110170396-TG-T
gnomAD v4: 13-110170396-TG-T
MyVariant Identifiers: chr13:g.110822744del (hg19) chr13:g.110170397del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170401del , CM000675.2:g.110170401del GRCh38
NC_000013.10:g.110822748del , CM000675.1:g.110822748del GRCh37
NC_000013.9:g.109620749del NCBI36
NG_011544.2:g.141753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3742+150del MANE Select ENSP00000364979.4:n.3742+150del
ENST00000375820.8:c.3742+150del ENSP00000364979.4:n.3742+150del
NM_001845.5:c.3742+150del NP_001836.3:n.3742+150del
XM_011521048.1:c.3550+150del XP_011519350.1:n.3550+150del
XM_011521048.2:c.3550+150del XP_011519350.1:n.3550+150del
NM_001845.6:c.3742+150del MANE Select NP_001836.3:n.3742+150del
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