Canonical Allele Identifier: CA2450721524

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068700132

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694700del , CM000685.2:g.108694700del	GRCh38
NC_000023.10:g.107937930del , CM000685.1:g.107937930del	GRCh37
NC_000023.9:g.107824586del	NCBI36
NG_011977.1:g.259777del
NG_011977.2:g.259777del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4707-107del MANE Select	ENSP00000331902.7:n.4707-107del
ENST00000361603.7:c.4689-107del	ENSP00000354505.2:n.4689-107del
ENST00000510690.2:n.1201-107del
ENST00000644079.1:n.1086del
ENST00000328300.10:c.4707-107del	ENSP00000331902.6:n.4707-107del
ENST00000361603.6:c.4689-107del	ENSP00000354505.2:n.4689-107del
ENST00000504541.1:c.105-107del	ENSP00000424845.1:n.105-107del
ENST00000515658.1:c.325-1597del
NM_000495.4:c.4689-107del	NP_000486.1:n.4689-107del
NM_033380.2:c.4707-107del	NP_203699.1:n.4707-107del
XM_005262070.2:c.4698-107del	XP_005262127.1:n.4698-107del
XM_006724616.2:c.4707-107del	XP_006724679.1:n.4707-107del
XM_011530849.1:c.4383-107del	XP_011529151.1:n.4383-107del
XM_011530851.1:c.2280-107del	XP_011529153.1:n.2280-107del
XM_011530849.2:c.4722-107del	XP_011529151.2:n.4722-107del
XM_017029259.2:c.4713-107del	XP_016884748.1:n.4713-107del
XM_017029260.1:c.4704-107del	XP_016884749.1:n.4704-107del
XM_017029263.2:c.3042-107del	XP_016884752.1:n.3042-107del
NM_000495.5:c.4689-107del	NP_000486.1:n.4689-107del
NM_033380.3:c.4707-107del MANE Select	NP_203699.1:n.4707-107del