Canonical Allele Identifier: CA10489409

Gene: COL4A5

Linked Data

• dbSNP Id: rs761978420
• ExAC: X:107938001 CTG / C
• gnomAD v2: X-107938001-CTG-C
• gnomAD v4: X-108694771-CTG-C
• MyVariant Identifiers: chrX:g.107938002_107938003del (hg19) ; chrX:g.108694772_108694773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694773_108694774del , CM000685.2:g.108694773_108694774del	GRCh38
NC_000023.10:g.107938003_107938004del , CM000685.1:g.107938003_107938004del	GRCh37
NC_000023.9:g.107824659_107824660del	NCBI36
NG_011977.1:g.259850_259851del
NG_011977.2:g.259850_259851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4707-34_4707-33del MANE Select	ENSP00000331902.7:n.4707-34_4707-33del
ENST00000361603.7:c.4689-34_4689-33del	ENSP00000354505.2:n.4689-34_4689-33del
ENST00000510690.2:n.1201-34_1201-33del
ENST00000644079.1:n.1159_1160del
ENST00000328300.10:c.4707-34_4707-33del	ENSP00000331902.6:n.4707-34_4707-33del
ENST00000361603.6:c.4689-34_4689-33del	ENSP00000354505.2:n.4689-34_4689-33del
ENST00000504541.1:c.105-34_105-33del	ENSP00000424845.1:n.105-34_105-33del
ENST00000515658.1:c.325-1524_325-1523del
NM_000495.4:c.4689-34_4689-33del	NP_000486.1:n.4689-34_4689-33del
NM_033380.2:c.4707-34_4707-33del	NP_203699.1:n.4707-34_4707-33del
XM_005262070.2:c.4698-34_4698-33del	XP_005262127.1:n.4698-34_4698-33del
XM_006724616.2:c.4707-34_4707-33del	XP_006724679.1:n.4707-34_4707-33del
XM_011530849.1:c.4383-34_4383-33del	XP_011529151.1:n.4383-34_4383-33del
XM_011530851.1:c.2280-34_2280-33del	XP_011529153.1:n.2280-34_2280-33del
XM_011530849.2:c.4722-34_4722-33del	XP_011529151.2:n.4722-34_4722-33del
XM_017029259.2:c.4713-34_4713-33del	XP_016884748.1:n.4713-34_4713-33del
XM_017029260.1:c.4704-34_4704-33del	XP_016884749.1:n.4704-34_4704-33del
XM_017029263.2:c.3042-34_3042-33del	XP_016884752.1:n.3042-34_3042-33del
NM_000495.5:c.4689-34_4689-33del	NP_000486.1:n.4689-34_4689-33del
NM_033380.3:c.4707-34_4707-33del MANE Select	NP_203699.1:n.4707-34_4707-33del