Canonical Allele Identifier: CA334063158

Gene: COL4A5

Linked Data

• dbSNP Id: rs759002058
• gnomAD v2: X-107938313-CAT-C
• gnomAD v3: X-108695083-CAT-C
• gnomAD v4: X-108695083-CAT-C
• MyVariant Identifiers: chrX:g.107938314_107938315del (hg19) ; chrX:g.108695084_108695085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695086_108695087del , CM000685.2:g.108695086_108695087del	GRCh38
NC_000023.10:g.107938316_107938317del , CM000685.1:g.107938316_107938317del	GRCh37
NC_000023.9:g.107824972_107824973del	NCBI36
NG_011977.1:g.260163_260164del
NG_011977.2:g.260163_260164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+165_4821+166del MANE Select	ENSP00000331902.7:n.4821+165_4821+166del
ENST00000361603.7:c.4803+165_4803+166del	ENSP00000354505.2:n.4803+165_4803+166del
ENST00000510690.2:n.1315+165_1315+166del
ENST00000644079.1:n.1472_1473del
ENST00000328300.10:c.4821+165_4821+166del	ENSP00000331902.6:n.4821+165_4821+166del
ENST00000361603.6:c.4803+165_4803+166del	ENSP00000354505.2:n.4803+165_4803+166del
ENST00000504541.1:c.219+165_219+166del	ENSP00000424845.1:n.219+165_219+166del
ENST00000515658.1:c.325-1211_325-1210del
NM_000495.4:c.4803+165_4803+166del	NP_000486.1:n.4803+165_4803+166del
NM_033380.2:c.4821+165_4821+166del	NP_203699.1:n.4821+165_4821+166del
XM_005262070.2:c.4812+165_4812+166del	XP_005262127.1:n.4812+165_4812+166del
XM_006724616.2:c.4821+165_4821+166del	XP_006724679.1:n.4821+165_4821+166del
XM_011530849.1:c.4497+165_4497+166del	XP_011529151.1:n.4497+165_4497+166del
XM_011530851.1:c.2394+165_2394+166del	XP_011529153.1:n.2394+165_2394+166del
XM_011530849.2:c.4836+165_4836+166del	XP_011529151.2:n.4836+165_4836+166del
XM_017029259.2:c.4827+165_4827+166del	XP_016884748.1:n.4827+165_4827+166del
XM_017029260.1:c.4818+165_4818+166del	XP_016884749.1:n.4818+165_4818+166del
XM_017029263.2:c.3156+165_3156+166del	XP_016884752.1:n.3156+165_3156+166del
NM_000495.5:c.4803+165_4803+166del	NP_000486.1:n.4803+165_4803+166del
NM_033380.3:c.4821+165_4821+166del MANE Select	NP_203699.1:n.4821+165_4821+166del