Canonical Allele Identifier: CA2450719169

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687411_108687414delinsGTTT , CM000685.2:g.108687411_108687414delinsGTTT	GRCh38
NC_000023.10:g.107930641_107930644delinsGTTT , CM000685.1:g.107930641_107930644delinsGTTT	GRCh37
NC_000023.9:g.107817297_107817300delinsGTTT	NCBI36
NG_011977.1:g.252488_252491delinsGTTT
NG_011977.2:g.252488_252491delinsGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316-71_4316-68delinsGTTT MANE Select	ENSP00000331902.7:n.4316-71_4316-68delinsGTTT
ENST00000361603.7:c.4298-71_4298-68delinsGTTT	ENSP00000354505.2:n.4298-71_4298-68delinsGTTT
ENST00000510690.2:n.810-71_810-68delinsGTTT
ENST00000328300.10:c.4316-71_4316-68delinsGTTT	ENSP00000331902.6:n.4316-71_4316-68delinsGTTT
ENST00000361603.6:c.4298-71_4298-68delinsGTTT	ENSP00000354505.2:n.4298-71_4298-68delinsGTTT
ENST00000489230.1:n.719-71_719-68delinsGTTT
ENST00000515658.1:c.112-71_112-68delinsGTTT
NM_000495.4:c.4298-71_4298-68delinsGTTT	NP_000486.1:n.4298-71_4298-68delinsGTTT
NM_033380.2:c.4316-71_4316-68delinsGTTT	NP_203699.1:n.4316-71_4316-68delinsGTTT
XM_005262070.2:c.4307-71_4307-68delinsGTTT	XP_005262127.1:n.4307-71_4307-68delinsGTTT
XM_006724616.2:c.4316-71_4316-68delinsGTTT	XP_006724679.1:n.4316-71_4316-68delinsGTTT
XM_011530849.1:c.3992-71_3992-68delinsGTTT	XP_011529151.1:n.3992-71_3992-68delinsGTTT
XM_011530851.1:c.1889-71_1889-68delinsGTTT	XP_011529153.1:n.1889-71_1889-68delinsGTTT
XM_011530849.2:c.4331-71_4331-68delinsGTTT	XP_011529151.2:n.4331-71_4331-68delinsGTTT
XM_017029259.2:c.4322-71_4322-68delinsGTTT	XP_016884748.1:n.4322-71_4322-68delinsGTTT
XM_017029260.1:c.4313-71_4313-68delinsGTTT	XP_016884749.1:n.4313-71_4313-68delinsGTTT
XM_017029263.2:c.2651-71_2651-68delinsGTTT	XP_016884752.1:n.2651-71_2651-68delinsGTTT
NM_000495.5:c.4298-71_4298-68delinsGTTT	NP_000486.1:n.4298-71_4298-68delinsGTTT
NM_033380.3:c.4316-71_4316-68delinsGTTT MANE Select	NP_203699.1:n.4316-71_4316-68delinsGTTT