Canonical Allele Identifier: CA2822902280

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681071_108681078del , CM000685.2:g.108681071_108681078del	GRCh38
NC_000023.10:g.107924301_107924308del , CM000685.1:g.107924301_107924308del	GRCh37
NC_000023.9:g.107810957_107810964del	NCBI36
NG_011977.1:g.246148_246155del
NG_011977.2:g.246148_246155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4087+115_4087+122del MANE Select	ENSP00000331902.7:n.4087+115_4087+122del
ENST00000361603.7:c.4069+115_4069+122del	ENSP00000354505.2:n.4069+115_4069+122del
ENST00000510690.2:n.581+115_581+122del
ENST00000328300.10:c.4087+115_4087+122del	ENSP00000331902.6:n.4087+115_4087+122del
ENST00000361603.6:c.4069+115_4069+122del	ENSP00000354505.2:n.4069+115_4069+122del
ENST00000489230.1:n.490+115_490+122del
NM_000495.4:c.4069+115_4069+122del	NP_000486.1:n.4069+115_4069+122del
NM_033380.2:c.4087+115_4087+122del	NP_203699.1:n.4087+115_4087+122del
XM_005262070.2:c.4078+115_4078+122del	XP_005262127.1:n.4078+115_4078+122del
XM_006724616.2:c.4087+115_4087+122del	XP_006724679.1:n.4087+115_4087+122del
XM_011530849.1:c.3763+115_3763+122del	XP_011529151.1:n.3763+115_3763+122del
XM_011530851.1:c.1660+115_1660+122del	XP_011529153.1:n.1660+115_1660+122del
XM_011530849.2:c.4102+115_4102+122del	XP_011529151.2:n.4102+115_4102+122del
XM_017029259.2:c.4093+115_4093+122del	XP_016884748.1:n.4093+115_4093+122del
XM_017029260.1:c.4084+115_4084+122del	XP_016884749.1:n.4084+115_4084+122del
XM_017029263.2:c.2422+115_2422+122del	XP_016884752.1:n.2422+115_2422+122del
NM_000495.5:c.4069+115_4069+122del	NP_000486.1:n.4069+115_4069+122del
NM_033380.3:c.4087+115_4087+122del MANE Select	NP_203699.1:n.4087+115_4087+122del