Canonical Allele Identifier: CA2450722160

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068738579
• gnomAD v3: X-108696564-CAAAG-C
• gnomAD v4: X-108696564-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696565_108696568del , CM000685.2:g.108696565_108696568del	GRCh38
NC_000023.10:g.107939795_107939798del , CM000685.1:g.107939795_107939798del	GRCh37
NC_000023.9:g.107826451_107826454del	NCBI36
NG_011977.1:g.261642_261645del
NG_011977.2:g.261642_261645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*187_*190del MANE Select	ENSP00000331902.7:n.*187_*190del
ENST00000361603.7:c.*187_*190del	ENSP00000354505.2:n.*187_*190del
ENST00000644079.1:n.2951_2954del
ENST00000328300.10:c.*187_*190del	ENSP00000331902.6:n.*187_*190del
ENST00000361603.6:c.*187_*190del	ENSP00000354505.2:n.*187_*190del
ENST00000504541.1:c.488_491del	ENSP00000424845.1:n.488_491del
ENST00000515658.1:c.593_596del
NM_000495.4:c.*187_*190del	NP_000486.1:n.*187_*190del
NM_033380.2:c.*187_*190del	NP_203699.1:n.*187_*190del
XM_005262070.2:c.*187_*190del	XP_005262127.1:n.*187_*190del
XM_006724616.2:c.*187_*190del	XP_006724679.1:n.*187_*190del
XM_011530849.1:c.*187_*190del	XP_011529151.1:n.*187_*190del
XM_011530851.1:c.*187_*190del	XP_011529153.1:n.*187_*190del
XM_011530849.2:c.*187_*190del	XP_011529151.2:n.*187_*190del
XM_017029259.2:c.*187_*190del	XP_016884748.1:n.*187_*190del
XM_017029260.1:c.*187_*190del	XP_016884749.1:n.*187_*190del
XM_017029263.2:c.*187_*190del	XP_016884752.1:n.*187_*190del
NM_000495.5:c.*187_*190del	NP_000486.1:n.*187_*190del
NM_033380.3:c.*187_*190del MANE Select	NP_203699.1:n.*187_*190del