Canonical Allele Identifier: CA2694442863

Gene: COL4A5

Linked Data

• gnomAD v4: X-108681751-GTCTCATAGGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681754_108681765del , CM000685.2:g.108681754_108681765del	GRCh38
NC_000023.10:g.107924984_107924995del , CM000685.1:g.107924984_107924995del	GRCh37
NC_000023.9:g.107811640_107811651del	NCBI36
NG_011977.1:g.246831_246842del
NG_011977.2:g.246831_246842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4088-6_4093del
ENST00000361603.7:c.4070-6_4075del
ENST00000510690.2:n.582-6_587del
ENST00000328300.10:c.4088-6_4093del
ENST00000361603.6:c.4070-6_4075del
ENST00000489230.1:n.491-6_496del
NM_000495.4:c.4070-6_4075del
NM_033380.2:c.4088-6_4093del
XM_005262070.2:c.4079-6_4084del
XM_006724616.2:c.4088-6_4093del
XM_011530849.1:c.3764-6_3769del
XM_011530851.1:c.1661-6_1666del
XM_011530849.2:c.4103-6_4108del
XM_017029259.2:c.4094-6_4099del
XM_017029260.1:c.4085-6_4090del
XM_017029263.2:c.2423-6_2428del
NM_000495.5:c.4070-6_4075del
NM_033380.3:c.4088-6_4093del