Canonical Allele Identifier: CA2694415663

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695573-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695578_108695580del , CM000685.2:g.108695578_108695580del	GRCh38
NC_000023.10:g.107938808_107938810del , CM000685.1:g.107938808_107938810del	GRCh37
NC_000023.9:g.107825464_107825466del	NCBI36
NG_011977.1:g.260655_260657del
NG_011977.2:g.260655_260657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4994+139_4994+141del MANE Select	ENSP00000331902.7:n.4994+139_4994+141del
ENST00000361603.7:c.4976+139_4976+141del	ENSP00000354505.2:n.4976+139_4976+141del
ENST00000510690.2:n.1488+139_1488+141del
ENST00000644079.1:n.1964_1966del
ENST00000328300.10:c.4994+139_4994+141del	ENSP00000331902.6:n.4994+139_4994+141del
ENST00000361603.6:c.4976+139_4976+141del	ENSP00000354505.2:n.4976+139_4976+141del
ENST00000504541.1:c.219+657_219+659del	ENSP00000424845.1:n.219+657_219+659del
ENST00000515658.1:c.325-719_325-717del
NM_000495.4:c.4976+139_4976+141del	NP_000486.1:n.4976+139_4976+141del
NM_033380.2:c.4994+139_4994+141del	NP_203699.1:n.4994+139_4994+141del
XM_005262070.2:c.4985+139_4985+141del	XP_005262127.1:n.4985+139_4985+141del
XM_006724616.2:c.4994+139_4994+141del	XP_006724679.1:n.4994+139_4994+141del
XM_011530849.1:c.4670+139_4670+141del	XP_011529151.1:n.4670+139_4670+141del
XM_011530851.1:c.2567+139_2567+141del	XP_011529153.1:n.2567+139_2567+141del
XM_011530849.2:c.5009+139_5009+141del	XP_011529151.2:n.5009+139_5009+141del
XM_017029259.2:c.5000+139_5000+141del	XP_016884748.1:n.5000+139_5000+141del
XM_017029260.1:c.4991+139_4991+141del	XP_016884749.1:n.4991+139_4991+141del
XM_017029263.2:c.3329+139_3329+141del	XP_016884752.1:n.3329+139_3329+141del
NM_000495.5:c.4976+139_4976+141del	NP_000486.1:n.4976+139_4976+141del
NM_033380.3:c.4994+139_4994+141del MANE Select	NP_203699.1:n.4994+139_4994+141del