Canonical Allele Identifier: CA2694440231

Gene: COL4A5

Linked Data

• gnomAD v4: X-108622598-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622601_108622602del , CM000685.2:g.108622601_108622602del	GRCh38
NC_000023.10:g.107865831_107865832del , CM000685.1:g.107865831_107865832del	GRCh37
NC_000023.9:g.107752487_107752488del	NCBI36
NG_011977.1:g.187678_187679del
NG_011977.2:g.187678_187679del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2768-75_2768-74del MANE Select	ENSP00000331902.7:n.2768-75_2768-74del
ENST00000361603.7:c.2768-75_2768-74del	ENSP00000354505.2:n.2768-75_2768-74del
ENST00000328300.10:c.2768-75_2768-74del	ENSP00000331902.6:n.2768-75_2768-74del
ENST00000361603.6:c.2768-75_2768-74del	ENSP00000354505.2:n.2768-75_2768-74del
ENST00000483338.1:n.2224-75_2224-74del
NM_000495.4:c.2768-75_2768-74del	NP_000486.1:n.2768-75_2768-74del
NM_033380.2:c.2768-75_2768-74del	NP_203699.1:n.2768-75_2768-74del
XM_005262070.2:c.2768-75_2768-74del	XP_005262127.1:n.2768-75_2768-74del
XM_005262072.3:c.2768-75_2768-74del	XP_005262129.1:n.2768-75_2768-74del
XM_006724616.2:c.2768-75_2768-74del	XP_006724679.1:n.2768-75_2768-74del
XM_011530849.1:c.2444-75_2444-74del	XP_011529151.1:n.2444-75_2444-74del
XM_011530850.1:c.2768-75_2768-74del	XP_011529152.1:n.2768-75_2768-74del
XM_011530851.1:c.341-75_341-74del	XP_011529153.1:n.341-75_341-74del
XM_011530849.2:c.2783-75_2783-74del	XP_011529151.2:n.2783-75_2783-74del
XM_017029259.2:c.2783-75_2783-74del	XP_016884748.1:n.2783-75_2783-74del
XM_017029260.1:c.2783-75_2783-74del	XP_016884749.1:n.2783-75_2783-74del
XM_017029261.1:c.2783-75_2783-74del	XP_016884750.1:n.2783-75_2783-74del
XM_017029262.2:c.2783-75_2783-74del	XP_016884751.1:n.2783-75_2783-74del
XM_017029263.2:c.1103-75_1103-74del	XP_016884752.1:n.1103-75_1103-74del
NM_000495.5:c.2768-75_2768-74del	NP_000486.1:n.2768-75_2768-74del
NM_033380.3:c.2768-75_2768-74del MANE Select	NP_203699.1:n.2768-75_2768-74del