Canonical Allele Identifier: CA869824061

Gene: COL4A5

Linked Data

• dbSNP Id: rs1465355858
• gnomAD v3: X-108685847-TTA-T
• gnomAD v4: X-108685847-TTA-T
• MyVariant Identifiers: chrX:g.107929078_107929079del (hg19) ; chrX:g.108685848_108685849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108685848_108685849del , CM000685.2:g.108685848_108685849del	GRCh38
NC_000023.10:g.107929078_107929079del , CM000685.1:g.107929078_107929079del	GRCh37
NC_000023.9:g.107815734_107815735del	NCBI36
NG_011977.1:g.250925_250926del
NG_011977.2:g.250925_250926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-183_4217-182del MANE Select	ENSP00000331902.7:n.4217-183_4217-182del
ENST00000361603.7:c.4199-183_4199-182del	ENSP00000354505.2:n.4199-183_4199-182del
ENST00000510690.2:n.711-183_711-182del
ENST00000328300.10:c.4217-183_4217-182del	ENSP00000331902.6:n.4217-183_4217-182del
ENST00000361603.6:c.4199-183_4199-182del	ENSP00000354505.2:n.4199-183_4199-182del
ENST00000489230.1:n.620-183_620-182del
ENST00000515658.1:c.13-183_13-182del
NM_000495.4:c.4199-183_4199-182del	NP_000486.1:n.4199-183_4199-182del
NM_033380.2:c.4217-183_4217-182del	NP_203699.1:n.4217-183_4217-182del
XM_005262070.2:c.4208-183_4208-182del	XP_005262127.1:n.4208-183_4208-182del
XM_006724616.2:c.4217-183_4217-182del	XP_006724679.1:n.4217-183_4217-182del
XM_011530849.1:c.3893-183_3893-182del	XP_011529151.1:n.3893-183_3893-182del
XM_011530851.1:c.1790-183_1790-182del	XP_011529153.1:n.1790-183_1790-182del
XM_011530849.2:c.4232-183_4232-182del	XP_011529151.2:n.4232-183_4232-182del
XM_017029259.2:c.4223-183_4223-182del	XP_016884748.1:n.4223-183_4223-182del
XM_017029260.1:c.4214-183_4214-182del	XP_016884749.1:n.4214-183_4214-182del
XM_017029263.2:c.2552-183_2552-182del	XP_016884752.1:n.2552-183_2552-182del
NM_000495.5:c.4199-183_4199-182del	NP_000486.1:n.4199-183_4199-182del
NM_033380.3:c.4217-183_4217-182del MANE Select	NP_203699.1:n.4217-183_4217-182del