Canonical Allele Identifier: CA258993

Gene: COL4A5

Linked Data

• dbSNP Id: rs606231371
• MyVariant Identifiers: chrX:g.107925081_107925082insTCCT (hg19) ; chrX:g.108681851_108681852insTCCT (hg38)
• PubMed: PMID:8651296

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681851_108681852insTCCT , CM000685.2:g.108681851_108681852insTCCT	GRCh38
NC_000023.10:g.107925081_107925082insTCCT , CM000685.1:g.107925081_107925082insTCCT	GRCh37
NC_000023.9:g.107811737_107811738insTCCT	NCBI36
NG_011977.1:g.246928_246929insTCCT
NG_011977.2:g.246928_246929insTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4179_4180insTCCT MANE Select	ENSP00000331902.7:p.Gly1394SerfsTer31
ENST00000361603.7:c.4161_4162insTCCT	ENSP00000354505.2:p.Gly1388SerfsTer31
ENST00000510690.2:n.673_674insTCCT
ENST00000328300.10:c.4179_4180insTCCT	ENSP00000331902.6:p.Gly1394SerfsTer31
ENST00000361603.6:c.4161_4162insTCCT	ENSP00000354505.2:p.Gly1388SerfsTer31
ENST00000489230.1:n.582_583insTCCT
NM_000495.4:c.4161_4162insTCCT	NP_000486.1:p.Gly1388SerfsTer31
NM_033380.2:c.4179_4180insTCCT	NP_203699.1:p.Gly1394SerfsTer31
XM_005262070.2:c.4170_4171insTCCT	XP_005262127.1:p.Gly1391SerfsTer31
XM_006724616.2:c.4179_4180insTCCT	XP_006724679.1:p.Gly1394SerfsTer31
XM_011530849.1:c.3855_3856insTCCT	XP_011529151.1:p.Gly1286SerfsTer31
XM_011530851.1:c.1752_1753insTCCT	XP_011529153.1:p.Gly585SerfsTer31
XM_011530849.2:c.4194_4195insTCCT	XP_011529151.2:p.Gly1399SerfsTer31
XM_017029259.2:c.4185_4186insTCCT	XP_016884748.1:p.Gly1396SerfsTer31
XM_017029260.1:c.4176_4177insTCCT	XP_016884749.1:p.Gly1393SerfsTer31
XM_017029263.2:c.2514_2515insTCCT	XP_016884752.1:p.Gly839SerfsTer31
NM_000495.5:c.4161_4162insTCCT	NP_000486.1:p.Gly1388SerfsTer31
NM_033380.3:c.4179_4180insTCCT MANE Select	NP_203699.1:p.Gly1394SerfsTer31