Canonical Allele Identifier: CA2450719096

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687171_108687178delinsCAGCAATG , CM000685.2:g.108687171_108687178delinsCAGCAATG	GRCh38
NC_000023.10:g.107930401_107930408delinsCAGCAATG , CM000685.1:g.107930401_107930408delinsCAGCAATG	GRCh37
NC_000023.9:g.107817057_107817064delinsCAGCAATG	NCBI36
NG_011977.1:g.252248_252255delinsCAGCAATG
NG_011977.2:g.252248_252255delinsCAGCAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316-311_4316-304delinsCAGCAATG MANE Select	ENSP00000331902.7:n.4316-311_4316-304delinsCAGCAATG
ENST00000361603.7:c.4298-311_4298-304delinsCAGCAATG	ENSP00000354505.2:n.4298-311_4298-304delinsCAGCAATG
ENST00000510690.2:n.810-311_810-304delinsCAGCAATG
ENST00000328300.10:c.4316-311_4316-304delinsCAGCAATG	ENSP00000331902.6:n.4316-311_4316-304delinsCAGCAATG
ENST00000361603.6:c.4298-311_4298-304delinsCAGCAATG	ENSP00000354505.2:n.4298-311_4298-304delinsCAGCAATG
ENST00000489230.1:n.719-311_719-304delinsCAGCAATG
ENST00000515658.1:c.112-311_112-304delinsCAGCAATG
NM_000495.4:c.4298-311_4298-304delinsCAGCAATG	NP_000486.1:n.4298-311_4298-304delinsCAGCAATG
NM_033380.2:c.4316-311_4316-304delinsCAGCAATG	NP_203699.1:n.4316-311_4316-304delinsCAGCAATG
XM_005262070.2:c.4307-311_4307-304delinsCAGCAATG	XP_005262127.1:n.4307-311_4307-304delinsCAGCAATG
XM_006724616.2:c.4316-311_4316-304delinsCAGCAATG	XP_006724679.1:n.4316-311_4316-304delinsCAGCAATG
XM_011530849.1:c.3992-311_3992-304delinsCAGCAATG	XP_011529151.1:n.3992-311_3992-304delinsCAGCAATG
XM_011530851.1:c.1889-311_1889-304delinsCAGCAATG	XP_011529153.1:n.1889-311_1889-304delinsCAGCAATG
XM_011530849.2:c.4331-311_4331-304delinsCAGCAATG	XP_011529151.2:n.4331-311_4331-304delinsCAGCAATG
XM_017029259.2:c.4322-311_4322-304delinsCAGCAATG	XP_016884748.1:n.4322-311_4322-304delinsCAGCAATG
XM_017029260.1:c.4313-311_4313-304delinsCAGCAATG	XP_016884749.1:n.4313-311_4313-304delinsCAGCAATG
XM_017029263.2:c.2651-311_2651-304delinsCAGCAATG	XP_016884752.1:n.2651-311_2651-304delinsCAGCAATG
NM_000495.5:c.4298-311_4298-304delinsCAGCAATG	NP_000486.1:n.4298-311_4298-304delinsCAGCAATG
NM_033380.3:c.4316-311_4316-304delinsCAGCAATG MANE Select	NP_203699.1:n.4316-311_4316-304delinsCAGCAATG