Canonical Allele Identifier: CA869822355

Gene: COL4A5

Linked Data

• dbSNP Id: rs1340188408
• gnomAD v3: X-108680517-ACT-A
• gnomAD v4: X-108680517-ACT-A
• MyVariant Identifiers: chrX:g.107923748_107923749del (hg19) ; chrX:g.108680518_108680519del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680519_108680520del , CM000685.2:g.108680519_108680520del	GRCh38
NC_000023.10:g.107923749_107923750del , CM000685.1:g.107923749_107923750del	GRCh37
NC_000023.9:g.107810405_107810406del	NCBI36
NG_011977.1:g.245596_245597del
NG_011977.2:g.245596_245597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3943-160_3943-159del MANE Select	ENSP00000331902.7:n.3943-160_3943-159del
ENST00000361603.7:c.3925-160_3925-159del	ENSP00000354505.2:n.3925-160_3925-159del
ENST00000510690.2:n.437-160_437-159del
ENST00000328300.10:c.3943-160_3943-159del	ENSP00000331902.6:n.3943-160_3943-159del
ENST00000361603.6:c.3925-160_3925-159del	ENSP00000354505.2:n.3925-160_3925-159del
ENST00000489230.1:n.346-160_346-159del
NM_000495.4:c.3925-160_3925-159del	NP_000486.1:n.3925-160_3925-159del
NM_033380.2:c.3943-160_3943-159del	NP_203699.1:n.3943-160_3943-159del
XM_005262070.2:c.3934-160_3934-159del	XP_005262127.1:n.3934-160_3934-159del
XM_006724616.2:c.3943-160_3943-159del	XP_006724679.1:n.3943-160_3943-159del
XM_011530849.1:c.3619-160_3619-159del	XP_011529151.1:n.3619-160_3619-159del
XM_011530851.1:c.1516-160_1516-159del	XP_011529153.1:n.1516-160_1516-159del
XM_011530849.2:c.3958-160_3958-159del	XP_011529151.2:n.3958-160_3958-159del
XM_017029259.2:c.3949-160_3949-159del	XP_016884748.1:n.3949-160_3949-159del
XM_017029260.1:c.3940-160_3940-159del	XP_016884749.1:n.3940-160_3940-159del
XM_017029261.1:c.*255_*256del	XP_016884750.1:n.*255_*256del
XM_017029263.2:c.2278-160_2278-159del	XP_016884752.1:n.2278-160_2278-159del
NM_000495.5:c.3925-160_3925-159del	NP_000486.1:n.3925-160_3925-159del
NM_033380.3:c.3943-160_3943-159del MANE Select	NP_203699.1:n.3943-160_3943-159del