Canonical Allele Identifier: CA869824386

Gene: COL4A5

Linked Data

• dbSNP Id: rs1282584868
• gnomAD v3: X-108686287-AAGG-A
• gnomAD v4: X-108686287-AAGG-A
• MyVariant Identifiers: chrX:g.107929518_107929520del (hg19) ; chrX:g.108686288_108686290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686290_108686292del , CM000685.2:g.108686290_108686292del	GRCh38
NC_000023.10:g.107929520_107929522del , CM000685.1:g.107929520_107929522del	GRCh37
NC_000023.9:g.107816176_107816178del	NCBI36
NG_011977.1:g.251367_251369del
NG_011977.2:g.251367_251369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4315+161_4315+163del MANE Select	ENSP00000331902.7:n.4315+161_4315+163del
ENST00000361603.7:c.4297+161_4297+163del	ENSP00000354505.2:n.4297+161_4297+163del
ENST00000510690.2:n.809+161_809+163del
ENST00000328300.10:c.4315+161_4315+163del	ENSP00000331902.6:n.4315+161_4315+163del
ENST00000361603.6:c.4297+161_4297+163del	ENSP00000354505.2:n.4297+161_4297+163del
ENST00000489230.1:n.718+161_718+163del
ENST00000515658.1:c.111+161_111+163del
NM_000495.4:c.4297+161_4297+163del	NP_000486.1:n.4297+161_4297+163del
NM_033380.2:c.4315+161_4315+163del	NP_203699.1:n.4315+161_4315+163del
XM_005262070.2:c.4306+161_4306+163del	XP_005262127.1:n.4306+161_4306+163del
XM_006724616.2:c.4315+161_4315+163del	XP_006724679.1:n.4315+161_4315+163del
XM_011530849.1:c.3991+161_3991+163del	XP_011529151.1:n.3991+161_3991+163del
XM_011530851.1:c.1888+161_1888+163del	XP_011529153.1:n.1888+161_1888+163del
XM_011530849.2:c.4330+161_4330+163del	XP_011529151.2:n.4330+161_4330+163del
XM_017029259.2:c.4321+161_4321+163del	XP_016884748.1:n.4321+161_4321+163del
XM_017029260.1:c.4312+161_4312+163del	XP_016884749.1:n.4312+161_4312+163del
XM_017029263.2:c.2650+161_2650+163del	XP_016884752.1:n.2650+161_2650+163del
NM_000495.5:c.4297+161_4297+163del	NP_000486.1:n.4297+161_4297+163del
NM_033380.3:c.4315+161_4315+163del MANE Select	NP_203699.1:n.4315+161_4315+163del