Canonical Allele Identifier: CA10489456

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2821649
• ClinVar RCV Id: RCV003711730
• dbSNP Id: rs767745980
• ExAC: X:107939508 CTTAT / C
• gnomAD v2: X-107939508-CTTAT-C
• MyVariant Identifiers: chrX:g.107939509_107939512del (hg19) ; chrX:g.108696279_108696282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696281_108696284del , CM000685.2:g.108696281_108696284del	GRCh38
NC_000023.10:g.107939511_107939514del , CM000685.1:g.107939511_107939514del	GRCh37
NC_000023.9:g.107826167_107826170del	NCBI36
NG_011977.1:g.261358_261361del
NG_011977.2:g.261358_261361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4995-16_4995-13del MANE Select	ENSP00000331902.7:n.4995-16_4995-13del
ENST00000361603.7:c.4977-16_4977-13del	ENSP00000354505.2:n.4977-16_4977-13del
ENST00000510690.2:n.1489-16_1489-13del
ENST00000644079.1:n.2667_2670del
ENST00000328300.10:c.4995-16_4995-13del	ENSP00000331902.6:n.4995-16_4995-13del
ENST00000361603.6:c.4977-16_4977-13del	ENSP00000354505.2:n.4977-16_4977-13del
ENST00000504541.1:c.220-16_220-13del	ENSP00000424845.1:n.220-16_220-13del
ENST00000515658.1:c.325-16_325-13del
NM_000495.4:c.4977-16_4977-13del	NP_000486.1:n.4977-16_4977-13del
NM_033380.2:c.4995-16_4995-13del	NP_203699.1:n.4995-16_4995-13del
XM_005262070.2:c.4986-16_4986-13del	XP_005262127.1:n.4986-16_4986-13del
XM_006724616.2:c.4995-16_4995-13del	XP_006724679.1:n.4995-16_4995-13del
XM_011530849.1:c.4671-16_4671-13del	XP_011529151.1:n.4671-16_4671-13del
XM_011530851.1:c.2568-16_2568-13del	XP_011529153.1:n.2568-16_2568-13del
XM_011530849.2:c.5010-16_5010-13del	XP_011529151.2:n.5010-16_5010-13del
XM_017029259.2:c.5001-16_5001-13del	XP_016884748.1:n.5001-16_5001-13del
XM_017029260.1:c.4992-16_4992-13del	XP_016884749.1:n.4992-16_4992-13del
XM_017029263.2:c.3330-16_3330-13del	XP_016884752.1:n.3330-16_3330-13del
NM_000495.5:c.4977-16_4977-13del	NP_000486.1:n.4977-16_4977-13del
NM_033380.3:c.4995-16_4995-13del MANE Select	NP_203699.1:n.4995-16_4995-13del