Canonical Allele Identifier: CA517922328

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107909747_107909748del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666517_108666518del , CM000685.2:g.108666517_108666518del	GRCh38
NC_000023.10:g.107909747_107909748del , CM000685.1:g.107909747_107909748del	GRCh37
NC_000023.9:g.107796403_107796404del	NCBI36
NG_011977.1:g.231594_231595del
NG_011977.2:g.231594_231595del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3476_3477del MANE Select	ENSP00000331902.7:p.Gln1159ProfsTer24
ENST00000361603.7:c.3476_3477del	ENSP00000354505.2:p.Gln1159ProfsTer24
ENST00000328300.10:c.3476_3477del	ENSP00000331902.6:p.Gln1159ProfsTer24
ENST00000361603.6:c.3476_3477del	ENSP00000354505.2:p.Gln1159ProfsTer24
NM_000495.4:c.3476_3477del	NP_000486.1:p.Gln1159ProfsTer24
NM_033380.2:c.3476_3477del	NP_203699.1:p.Gln1159ProfsTer24
XM_005262070.2:c.3476_3477del	XP_005262127.1:p.Gln1159ProfsTer24
XM_006724616.2:c.3476_3477del	XP_006724679.1:p.Gln1159ProfsTer24
XM_011530849.1:c.3152_3153del	XP_011529151.1:p.Gln1051ProfsTer24
XM_011530850.1:c.3476_3477del	XP_011529152.1:p.Gln1159ProfsTer24
XM_011530851.1:c.1049_1050del	XP_011529153.1:p.Gln350ProfsTer24
XM_011530849.2:c.3491_3492del	XP_011529151.2:p.Gln1164ProfsTer24
XM_017029259.2:c.3491_3492del	XP_016884748.1:p.Gln1164ProfsTer24
XM_017029260.1:c.3491_3492del	XP_016884749.1:p.Gln1164ProfsTer24
XM_017029261.1:c.3491_3492del	XP_016884750.1:p.Gln1164ProfsTer24
XM_017029262.2:c.3491_3492del	XP_016884751.1:p.Gln1164ProfsTer24
XM_017029263.2:c.1811_1812del	XP_016884752.1:p.Gln604ProfsTer24
NM_000495.5:c.3476_3477del	NP_000486.1:p.Gln1159ProfsTer24
NM_033380.3:c.3476_3477del MANE Select	NP_203699.1:p.Gln1159ProfsTer24