Canonical Allele Identifier: CA2579675912

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108576036_108576041del , CM000685.2:g.108576036_108576041del	GRCh38
NC_000023.10:g.107819266_107819271del , CM000685.1:g.107819266_107819271del	GRCh37
NC_000023.9:g.107705922_107705927del	NCBI36
NG_011977.1:g.141113_141118del
NG_011977.2:g.141113_141118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.609+64_609+69del MANE Select	ENSP00000331902.7:n.609+64_609+69del
ENST00000361603.7:c.609+64_609+69del	ENSP00000354505.2:n.609+64_609+69del
ENST00000328300.10:c.609+64_609+69del	ENSP00000331902.6:n.609+64_609+69del
ENST00000361603.6:c.609+64_609+69del	ENSP00000354505.2:n.609+64_609+69del
NM_000495.4:c.609+64_609+69del	NP_000486.1:n.609+64_609+69del
NM_033380.2:c.609+64_609+69del	NP_203699.1:n.609+64_609+69del
XM_005262070.2:c.609+64_609+69del	XP_005262127.1:n.609+64_609+69del
XM_005262072.3:c.609+64_609+69del	XP_005262129.1:n.609+64_609+69del
XM_006724616.2:c.609+64_609+69del	XP_006724679.1:n.609+64_609+69del
XM_011530849.1:c.285+64_285+69del	XP_011529151.1:n.285+64_285+69del
XM_011530850.1:c.609+64_609+69del	XP_011529152.1:n.609+64_609+69del
XM_011530849.2:c.624+64_624+69del	XP_011529151.2:n.624+64_624+69del
XM_017029259.2:c.624+64_624+69del	XP_016884748.1:n.624+64_624+69del
XM_017029260.1:c.624+64_624+69del	XP_016884749.1:n.624+64_624+69del
XM_017029261.1:c.624+64_624+69del	XP_016884750.1:n.624+64_624+69del
XM_017029262.2:c.624+64_624+69del	XP_016884751.1:n.624+64_624+69del
NM_000495.5:c.609+64_609+69del	NP_000486.1:n.609+64_609+69del
NM_033380.3:c.609+64_609+69del MANE Select	NP_203699.1:n.609+64_609+69del