Canonical Allele Identifier: CA2450683120

Gene: COL4A5

Linked Data

• dbSNP Id: rs200100909
• gnomAD v4: X-108580782-ATGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108580793_108580796del , CM000685.2:g.108580793_108580796del	GRCh38
NC_000023.10:g.107824023_107824026del , CM000685.1:g.107824023_107824026del	GRCh37
NC_000023.9:g.107710679_107710682del	NCBI36
NG_011977.1:g.145870_145873del
NG_011977.2:g.145870_145873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.891+55_891+58del MANE Select	ENSP00000331902.7:n.891+55_891+58del
ENST00000361603.7:c.891+55_891+58del	ENSP00000354505.2:n.891+55_891+58del
ENST00000328300.10:c.891+55_891+58del	ENSP00000331902.6:n.891+55_891+58del
ENST00000361603.6:c.891+55_891+58del	ENSP00000354505.2:n.891+55_891+58del
NM_000495.4:c.891+55_891+58del	NP_000486.1:n.891+55_891+58del
NM_033380.2:c.891+55_891+58del	NP_203699.1:n.891+55_891+58del
XM_005262070.2:c.891+55_891+58del	XP_005262127.1:n.891+55_891+58del
XM_005262072.3:c.891+55_891+58del	XP_005262129.1:n.891+55_891+58del
XM_006724616.2:c.891+55_891+58del	XP_006724679.1:n.891+55_891+58del
XM_011530849.1:c.567+55_567+58del	XP_011529151.1:n.567+55_567+58del
XM_011530850.1:c.891+55_891+58del	XP_011529152.1:n.891+55_891+58del
XM_011530849.2:c.906+55_906+58del	XP_011529151.2:n.906+55_906+58del
XM_017029259.2:c.906+55_906+58del	XP_016884748.1:n.906+55_906+58del
XM_017029260.1:c.906+55_906+58del	XP_016884749.1:n.906+55_906+58del
XM_017029261.1:c.906+55_906+58del	XP_016884750.1:n.906+55_906+58del
XM_017029262.2:c.906+55_906+58del	XP_016884751.1:n.906+55_906+58del
NM_000495.5:c.891+55_891+58del	NP_000486.1:n.891+55_891+58del
NM_033380.3:c.891+55_891+58del MANE Select	NP_203699.1:n.891+55_891+58del