Canonical Allele Identifier: CA2450717206

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068434719

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681746_108681747del , CM000685.2:g.108681746_108681747del	GRCh38
NC_000023.10:g.107924976_107924977del , CM000685.1:g.107924976_107924977del	GRCh37
NC_000023.9:g.107811632_107811633del	NCBI36
NG_011977.1:g.246823_246824del
NG_011977.2:g.246823_246824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4088-14_4088-13del MANE Select	ENSP00000331902.7:n.4088-14_4088-13del
ENST00000361603.7:c.4070-14_4070-13del	ENSP00000354505.2:n.4070-14_4070-13del
ENST00000510690.2:n.582-14_582-13del
ENST00000328300.10:c.4088-14_4088-13del	ENSP00000331902.6:n.4088-14_4088-13del
ENST00000361603.6:c.4070-14_4070-13del	ENSP00000354505.2:n.4070-14_4070-13del
ENST00000489230.1:n.491-14_491-13del
NM_000495.4:c.4070-14_4070-13del	NP_000486.1:n.4070-14_4070-13del
NM_033380.2:c.4088-14_4088-13del	NP_203699.1:n.4088-14_4088-13del
XM_005262070.2:c.4079-14_4079-13del	XP_005262127.1:n.4079-14_4079-13del
XM_006724616.2:c.4088-14_4088-13del	XP_006724679.1:n.4088-14_4088-13del
XM_011530849.1:c.3764-14_3764-13del	XP_011529151.1:n.3764-14_3764-13del
XM_011530851.1:c.1661-14_1661-13del	XP_011529153.1:n.1661-14_1661-13del
XM_011530849.2:c.4103-14_4103-13del	XP_011529151.2:n.4103-14_4103-13del
XM_017029259.2:c.4094-14_4094-13del	XP_016884748.1:n.4094-14_4094-13del
XM_017029260.1:c.4085-14_4085-13del	XP_016884749.1:n.4085-14_4085-13del
XM_017029263.2:c.2423-14_2423-13del	XP_016884752.1:n.2423-14_2423-13del
NM_000495.5:c.4070-14_4070-13del	NP_000486.1:n.4070-14_4070-13del
NM_033380.3:c.4088-14_4088-13del MANE Select	NP_203699.1:n.4088-14_4088-13del