Canonical Allele Identifier: CA259098

Gene: COL4A5

Linked Data

• dbSNP Id: rs606231374
• MyVariant Identifiers: chrX:g.107938098_107938104del (hg19) ; chrX:g.108694868_108694874del (hg38)
• PubMed: PMID:10094548

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694868_108694874del , CM000685.2:g.108694868_108694874del	GRCh38
NC_000023.10:g.107938098_107938104del , CM000685.1:g.107938098_107938104del	GRCh37
NC_000023.9:g.107824754_107824760del	NCBI36
NG_011977.1:g.259945_259951del
NG_011977.2:g.259945_259951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4768_4774del MANE Select	ENSP00000331902.7:p.Pro1590ValfsTer15
ENST00000361603.7:c.4750_4756del	ENSP00000354505.2:p.Pro1584ValfsTer15
ENST00000510690.2:n.1262_1268del
ENST00000644079.1:n.1254_1260del
ENST00000328300.10:c.4768_4774del	ENSP00000331902.6:p.Pro1590ValfsTer15
ENST00000361603.6:c.4750_4756del	ENSP00000354505.2:p.Pro1584ValfsTer15
ENST00000504541.1:c.166_172del	ENSP00000424845.1:p.Pro56ValfsTer15
ENST00000515658.1:c.325-1429_325-1423del
NM_000495.4:c.4750_4756del	NP_000486.1:p.Pro1584ValfsTer15
NM_033380.2:c.4768_4774del	NP_203699.1:p.Pro1590ValfsTer15
XM_005262070.2:c.4759_4765del	XP_005262127.1:p.Pro1587ValfsTer15
XM_006724616.2:c.4768_4774del	XP_006724679.1:p.Pro1590ValfsTer15
XM_011530849.1:c.4444_4450del	XP_011529151.1:p.Pro1482ValfsTer15
XM_011530851.1:c.2341_2347del	XP_011529153.1:p.Pro781ValfsTer15
XM_011530849.2:c.4783_4789del	XP_011529151.2:p.Pro1595ValfsTer15
XM_017029259.2:c.4774_4780del	XP_016884748.1:p.Pro1592ValfsTer15
XM_017029260.1:c.4765_4771del	XP_016884749.1:p.Pro1589ValfsTer15
XM_017029263.2:c.3103_3109del	XP_016884752.1:p.Pro1035ValfsTer15
NM_000495.5:c.4750_4756del	NP_000486.1:p.Pro1584ValfsTer15
NM_033380.3:c.4768_4774del MANE Select	NP_203699.1:p.Pro1590ValfsTer15