Canonical Allele Identifier: CA869828346

Gene: COL4A5

Linked Data

• dbSNP Id: rs1182977357
• gnomAD v3: X-108696282-TTTC-T
• gnomAD v4: X-108696282-TTTC-T
• MyVariant Identifiers: chrX:g.107939513_107939515del (hg19) ; chrX:g.108696283_108696285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696285_108696287del , CM000685.2:g.108696285_108696287del	GRCh38
NC_000023.10:g.107939515_107939517del , CM000685.1:g.107939515_107939517del	GRCh37
NC_000023.9:g.107826171_107826173del	NCBI36
NG_011977.1:g.261362_261364del
NG_011977.2:g.261362_261364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4995-12_4995-10del MANE Select	ENSP00000331902.7:n.4995-12_4995-10del
ENST00000361603.7:c.4977-12_4977-10del	ENSP00000354505.2:n.4977-12_4977-10del
ENST00000510690.2:n.1489-12_1489-10del
ENST00000644079.1:n.2671_2673del
ENST00000328300.10:c.4995-12_4995-10del	ENSP00000331902.6:n.4995-12_4995-10del
ENST00000361603.6:c.4977-12_4977-10del	ENSP00000354505.2:n.4977-12_4977-10del
ENST00000504541.1:c.220-12_220-10del	ENSP00000424845.1:n.220-12_220-10del
ENST00000515658.1:c.325-12_325-10del
NM_000495.4:c.4977-12_4977-10del	NP_000486.1:n.4977-12_4977-10del
NM_033380.2:c.4995-12_4995-10del	NP_203699.1:n.4995-12_4995-10del
XM_005262070.2:c.4986-12_4986-10del	XP_005262127.1:n.4986-12_4986-10del
XM_006724616.2:c.4995-12_4995-10del	XP_006724679.1:n.4995-12_4995-10del
XM_011530849.1:c.4671-12_4671-10del	XP_011529151.1:n.4671-12_4671-10del
XM_011530851.1:c.2568-12_2568-10del	XP_011529153.1:n.2568-12_2568-10del
XM_011530849.2:c.5010-12_5010-10del	XP_011529151.2:n.5010-12_5010-10del
XM_017029259.2:c.5001-12_5001-10del	XP_016884748.1:n.5001-12_5001-10del
XM_017029260.1:c.4992-12_4992-10del	XP_016884749.1:n.4992-12_4992-10del
XM_017029263.2:c.3330-12_3330-10del	XP_016884752.1:n.3330-12_3330-10del
NM_000495.5:c.4977-12_4977-10del	NP_000486.1:n.4977-12_4977-10del
NM_033380.3:c.4995-12_4995-10del MANE Select	NP_203699.1:n.4995-12_4995-10del