Canonical Allele Identifier: CA695029528
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs1361104550
gnomAD v3: 13-110166197-CA-C
gnomAD v4: 13-110166197-CA-C
MyVariant Identifiers: chr13:g.110818545del (hg19) chr13:g.110166198del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166198del , CM000675.2:g.110166198del GRCh38
NC_000013.10:g.110818545del , CM000675.1:g.110818545del GRCh37
NC_000013.9:g.109616546del NCBI36
NG_011544.2:g.145952del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.4021+34del MANE Select ENSP00000364979.4:n.4021+34del
ENST00000650424.1:c.177+34del
ENST00000375820.8:c.4021+34del ENSP00000364979.4:n.4021+34del
NM_001845.5:c.4021+34del NP_001836.3:n.4021+34del
XM_011521048.1:c.3829+34del XP_011519350.1:n.3829+34del
XM_011521048.2:c.3829+34del XP_011519350.1:n.3829+34del
NM_001845.6:c.4021+34del MANE Select NP_001836.3:n.4021+34del
Search 100 bp 5'
Search 100 bp 3'