Canonical Allele Identifier: CA2450682259

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108578157_108578159delinsCTT , CM000685.2:g.108578157_108578159delinsCTT	GRCh38
NC_000023.10:g.107821387_107821389delinsCTT , CM000685.1:g.107821387_107821389delinsCTT	GRCh37
NC_000023.9:g.107708043_107708045delinsCTT	NCBI36
NG_011977.1:g.143234_143236delinsCTT
NG_011977.2:g.143234_143236delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.687+38_687+40delinsCTT MANE Select	ENSP00000331902.7:n.687+38_687+40delinsCTT
ENST00000361603.7:c.687+38_687+40delinsCTT	ENSP00000354505.2:n.687+38_687+40delinsCTT
ENST00000328300.10:c.687+38_687+40delinsCTT	ENSP00000331902.6:n.687+38_687+40delinsCTT
ENST00000361603.6:c.687+38_687+40delinsCTT	ENSP00000354505.2:n.687+38_687+40delinsCTT
NM_000495.4:c.687+38_687+40delinsCTT	NP_000486.1:n.687+38_687+40delinsCTT
NM_033380.2:c.687+38_687+40delinsCTT	NP_203699.1:n.687+38_687+40delinsCTT
XM_005262070.2:c.687+38_687+40delinsCTT	XP_005262127.1:n.687+38_687+40delinsCTT
XM_005262072.3:c.687+38_687+40delinsCTT	XP_005262129.1:n.687+38_687+40delinsCTT
XM_006724616.2:c.687+38_687+40delinsCTT	XP_006724679.1:n.687+38_687+40delinsCTT
XM_011530849.1:c.363+38_363+40delinsCTT	XP_011529151.1:n.363+38_363+40delinsCTT
XM_011530850.1:c.687+38_687+40delinsCTT	XP_011529152.1:n.687+38_687+40delinsCTT
XM_011530849.2:c.702+38_702+40delinsCTT	XP_011529151.2:n.702+38_702+40delinsCTT
XM_017029259.2:c.702+38_702+40delinsCTT	XP_016884748.1:n.702+38_702+40delinsCTT
XM_017029260.1:c.702+38_702+40delinsCTT	XP_016884749.1:n.702+38_702+40delinsCTT
XM_017029261.1:c.702+38_702+40delinsCTT	XP_016884750.1:n.702+38_702+40delinsCTT
XM_017029262.2:c.702+38_702+40delinsCTT	XP_016884751.1:n.702+38_702+40delinsCTT
NM_000495.5:c.687+38_687+40delinsCTT	NP_000486.1:n.687+38_687+40delinsCTT
NM_033380.3:c.687+38_687+40delinsCTT MANE Select	NP_203699.1:n.687+38_687+40delinsCTT