Canonical Allele Identifier: CA643637131

Gene: COL4A5

Linked Data

• dbSNP Id: rs1471150092
• gnomAD v2: X-107929392-GAA-G
• MyVariant Identifiers: chrX:g.107929393_107929394del (hg19) ; chrX:g.108686163_108686164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108686164_108686165del , CM000685.2:g.108686164_108686165del	GRCh38
NC_000023.10:g.107929394_107929395del , CM000685.1:g.107929394_107929395del	GRCh37
NC_000023.9:g.107816050_107816051del	NCBI36
NG_011977.1:g.251241_251242del
NG_011977.2:g.251241_251242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4315+35_4315+36del MANE Select	ENSP00000331902.7:n.4315+35_4315+36del
ENST00000361603.7:c.4297+35_4297+36del	ENSP00000354505.2:n.4297+35_4297+36del
ENST00000510690.2:n.809+35_809+36del
ENST00000328300.10:c.4315+35_4315+36del	ENSP00000331902.6:n.4315+35_4315+36del
ENST00000361603.6:c.4297+35_4297+36del	ENSP00000354505.2:n.4297+35_4297+36del
ENST00000489230.1:n.718+35_718+36del
ENST00000515658.1:c.111+35_111+36del
NM_000495.4:c.4297+35_4297+36del	NP_000486.1:n.4297+35_4297+36del
NM_033380.2:c.4315+35_4315+36del	NP_203699.1:n.4315+35_4315+36del
XM_005262070.2:c.4306+35_4306+36del	XP_005262127.1:n.4306+35_4306+36del
XM_006724616.2:c.4315+35_4315+36del	XP_006724679.1:n.4315+35_4315+36del
XM_011530849.1:c.3991+35_3991+36del	XP_011529151.1:n.3991+35_3991+36del
XM_011530851.1:c.1888+35_1888+36del	XP_011529153.1:n.1888+35_1888+36del
XM_011530849.2:c.4330+35_4330+36del	XP_011529151.2:n.4330+35_4330+36del
XM_017029259.2:c.4321+35_4321+36del	XP_016884748.1:n.4321+35_4321+36del
XM_017029260.1:c.4312+35_4312+36del	XP_016884749.1:n.4312+35_4312+36del
XM_017029263.2:c.2650+35_2650+36del	XP_016884752.1:n.2650+35_2650+36del
NM_000495.5:c.4297+35_4297+36del	NP_000486.1:n.4297+35_4297+36del
NM_033380.3:c.4315+35_4315+36del MANE Select	NP_203699.1:n.4315+35_4315+36del