Canonical Allele Identifier: CA2694438337

Gene: COL4A5

Linked Data

• gnomAD v4: X-108440055-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440057_108440058del , CM000685.2:g.108440057_108440058del	GRCh38
NC_000023.10:g.107683287_107683288del , CM000685.1:g.107683287_107683288del	GRCh37
NC_000023.9:g.107569943_107569944del	NCBI36
NG_011977.1:g.5134_5135del
NG_012059.2:g.4418_4419del
NG_011977.2:g.5134_5135del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-69_-68del MANE Select	ENSP00000331902.7:n.-69_-68del
ENST00000361603.7:c.-69_-68del	ENSP00000354505.2:n.-69_-68del
ENST00000642185.1:c.-69_-68del	ENSP00000495101.1:n.-69_-68del
ENST00000328300.10:c.-69_-68del	ENSP00000331902.6:n.-69_-68del
ENST00000361603.6:c.-69_-68del	ENSP00000354505.2:n.-69_-68del
ENST00000470339.1:n.116_117del
ENST00000477429.1:n.214_215del
NM_000495.4:c.-69_-68del	NP_000486.1:n.-69_-68del
NM_033380.2:c.-69_-68del	NP_203699.1:n.-69_-68del
XM_005262070.2:c.-69_-68del	XP_005262127.1:n.-69_-68del
XM_005262072.3:c.-69_-68del	XP_005262129.1:n.-69_-68del
XM_006724616.2:c.-69_-68del	XP_006724679.1:n.-69_-68del
XM_011530850.1:c.-69_-68del	XP_011529152.1:n.-69_-68del
NM_000495.5:c.-69_-68del	NP_000486.1:n.-69_-68del
NM_033380.3:c.-69_-68del MANE Select	NP_203699.1:n.-69_-68del