Canonical Allele Identifier: CA2694440609

Gene: COL4A5

Linked Data

• gnomAD v4: X-108626116-TTTTAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626117_108626123del , CM000685.2:g.108626117_108626123del	GRCh38
NC_000023.10:g.107869347_107869353del , CM000685.1:g.107869347_107869353del	GRCh37
NC_000023.9:g.107756003_107756009del	NCBI36
NG_011977.1:g.191194_191200del
NG_011977.2:g.191194_191200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3107-93_3107-87del MANE Select	ENSP00000331902.7:n.3107-93_3107-87del
ENST00000361603.7:c.3107-93_3107-87del	ENSP00000354505.2:n.3107-93_3107-87del
ENST00000328300.10:c.3107-93_3107-87del	ENSP00000331902.6:n.3107-93_3107-87del
ENST00000361603.6:c.3107-93_3107-87del	ENSP00000354505.2:n.3107-93_3107-87del
ENST00000483338.1:n.2563-93_2563-87del
ENST00000505728.1:c.340-93_340-87del
NM_000495.4:c.3107-93_3107-87del	NP_000486.1:n.3107-93_3107-87del
NM_033380.2:c.3107-93_3107-87del	NP_203699.1:n.3107-93_3107-87del
XM_005262070.2:c.3107-93_3107-87del	XP_005262127.1:n.3107-93_3107-87del
XM_005262072.3:c.3107-93_3107-87del	XP_005262129.1:n.3107-93_3107-87del
XM_006724616.2:c.3107-93_3107-87del	XP_006724679.1:n.3107-93_3107-87del
XM_011530849.1:c.2783-93_2783-87del	XP_011529151.1:n.2783-93_2783-87del
XM_011530850.1:c.3107-93_3107-87del	XP_011529152.1:n.3107-93_3107-87del
XM_011530851.1:c.680-93_680-87del	XP_011529153.1:n.680-93_680-87del
XM_011530849.2:c.3122-93_3122-87del	XP_011529151.2:n.3122-93_3122-87del
XM_017029259.2:c.3122-93_3122-87del	XP_016884748.1:n.3122-93_3122-87del
XM_017029260.1:c.3122-93_3122-87del	XP_016884749.1:n.3122-93_3122-87del
XM_017029261.1:c.3122-93_3122-87del	XP_016884750.1:n.3122-93_3122-87del
XM_017029262.2:c.3122-93_3122-87del	XP_016884751.1:n.3122-93_3122-87del
XM_017029263.2:c.1442-93_1442-87del	XP_016884752.1:n.1442-93_1442-87del
NM_000495.5:c.3107-93_3107-87del	NP_000486.1:n.3107-93_3107-87del
NM_033380.3:c.3107-93_3107-87del MANE Select	NP_203699.1:n.3107-93_3107-87del