Canonical Allele Identifier: CA2450716935

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680999_108681001delinsGCT , CM000685.2:g.108680999_108681001delinsGCT	GRCh38
NC_000023.10:g.107924229_107924231delinsGCT , CM000685.1:g.107924229_107924231delinsGCT	GRCh37
NC_000023.9:g.107810885_107810887delinsGCT	NCBI36
NG_011977.1:g.246076_246078delinsGCT
NG_011977.2:g.246076_246078delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4087+43_4087+45delinsGCT MANE Select	ENSP00000331902.7:n.4087+43_4087+45delinsGCT
ENST00000361603.7:c.4069+43_4069+45delinsGCT	ENSP00000354505.2:n.4069+43_4069+45delinsGCT
ENST00000510690.2:n.581+43_581+45delinsGCT
ENST00000328300.10:c.4087+43_4087+45delinsGCT	ENSP00000331902.6:n.4087+43_4087+45delinsGCT
ENST00000361603.6:c.4069+43_4069+45delinsGCT	ENSP00000354505.2:n.4069+43_4069+45delinsGCT
ENST00000489230.1:n.490+43_490+45delinsGCT
NM_000495.4:c.4069+43_4069+45delinsGCT	NP_000486.1:n.4069+43_4069+45delinsGCT
NM_033380.2:c.4087+43_4087+45delinsGCT	NP_203699.1:n.4087+43_4087+45delinsGCT
XM_005262070.2:c.4078+43_4078+45delinsGCT	XP_005262127.1:n.4078+43_4078+45delinsGCT
XM_006724616.2:c.4087+43_4087+45delinsGCT	XP_006724679.1:n.4087+43_4087+45delinsGCT
XM_011530849.1:c.3763+43_3763+45delinsGCT	XP_011529151.1:n.3763+43_3763+45delinsGCT
XM_011530851.1:c.1660+43_1660+45delinsGCT	XP_011529153.1:n.1660+43_1660+45delinsGCT
XM_011530849.2:c.4102+43_4102+45delinsGCT	XP_011529151.2:n.4102+43_4102+45delinsGCT
XM_017029259.2:c.4093+43_4093+45delinsGCT	XP_016884748.1:n.4093+43_4093+45delinsGCT
XM_017029260.1:c.4084+43_4084+45delinsGCT	XP_016884749.1:n.4084+43_4084+45delinsGCT
XM_017029263.2:c.2422+43_2422+45delinsGCT	XP_016884752.1:n.2422+43_2422+45delinsGCT
NM_000495.5:c.4069+43_4069+45delinsGCT	NP_000486.1:n.4069+43_4069+45delinsGCT
NM_033380.3:c.4087+43_4087+45delinsGCT MANE Select	NP_203699.1:n.4087+43_4087+45delinsGCT