Canonical Allele Identifier: CA695032386

Gene: COL4A1

Linked Data

• dbSNP Id: rs1319805447
• gnomAD v3: 13-110170021-TGGGAAGGAAGGAA-T
• gnomAD v4: 13-110170021-TGGGAAGGAAGGAA-T
• MyVariant Identifiers: chr13:g.110822369_110822381del (hg19) ; chr13:g.110170022_110170034del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110170026_110170038del , CM000675.2:g.110170026_110170038del	GRCh38
NC_000013.10:g.110822373_110822385del , CM000675.1:g.110822373_110822385del	GRCh37
NC_000013.9:g.109620374_109620386del	NCBI36
NG_011544.2:g.142116_142128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-272_3743-260del MANE Select	ENSP00000364979.4:n.3743-272_3743-260del
ENST00000375820.8:c.3743-272_3743-260del	ENSP00000364979.4:n.3743-272_3743-260del
NM_001845.5:c.3743-272_3743-260del	NP_001836.3:n.3743-272_3743-260del
XM_011521048.1:c.3551-272_3551-260del	XP_011519350.1:n.3551-272_3551-260del
XM_011521048.2:c.3551-272_3551-260del	XP_011519350.1:n.3551-272_3551-260del
NM_001845.6:c.3743-272_3743-260del MANE Select	NP_001836.3:n.3743-272_3743-260del