Canonical Allele Identifier: CA2822894654

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440282_108440283insTTTTTTTT , CM000685.2:g.108440282_108440283insTTTTTTTT	GRCh38
NC_000023.10:g.107683512_107683513insTTTTTTTT , CM000685.1:g.107683512_107683513insTTTTTTTT	GRCh37
NC_000023.9:g.107570168_107570169insTTTTTTTT	NCBI36
NG_011977.1:g.5359_5360insTTTTTTTT
NG_012059.2:g.4193_4194insAAAAAAAA
NG_011977.2:g.5359_5360insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.81+76_81+77insTTTTTTTT MANE Select	ENSP00000331902.7:n.81+76_81+77insTTTTTTTT
ENST00000361603.7:c.81+76_81+77insTTTTTTTT	ENSP00000354505.2:n.81+76_81+77insTTTTTTTT
ENST00000642185.1:c.82-59_82-58insTTTTTTTT	ENSP00000495101.1:n.82-59_82-58insTTTTTTTT
ENST00000328300.10:c.81+76_81+77insTTTTTTTT	ENSP00000331902.6:n.81+76_81+77insTTTTTTTT
ENST00000361603.6:c.81+76_81+77insTTTTTTTT	ENSP00000354505.2:n.81+76_81+77insTTTTTTTT
ENST00000470339.1:n.265+76_265+77insTTTTTTTT
ENST00000477429.1:n.363+76_363+77insTTTTTTTT
NM_000495.4:c.81+76_81+77insTTTTTTTT	NP_000486.1:n.81+76_81+77insTTTTTTTT
NM_033380.2:c.81+76_81+77insTTTTTTTT	NP_203699.1:n.81+76_81+77insTTTTTTTT
XM_005262070.2:c.81+76_81+77insTTTTTTTT	XP_005262127.1:n.81+76_81+77insTTTTTTTT
XM_005262072.3:c.81+76_81+77insTTTTTTTT	XP_005262129.1:n.81+76_81+77insTTTTTTTT
XM_006724616.2:c.81+76_81+77insTTTTTTTT	XP_006724679.1:n.81+76_81+77insTTTTTTTT
XM_011530850.1:c.81+76_81+77insTTTTTTTT	XP_011529152.1:n.81+76_81+77insTTTTTTTT
NM_000495.5:c.81+76_81+77insTTTTTTTT	NP_000486.1:n.81+76_81+77insTTTTTTTT
NM_033380.3:c.81+76_81+77insTTTTTTTT MANE Select	NP_203699.1:n.81+76_81+77insTTTTTTTT