Canonical Allele Identifier: CA2694438216

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439924-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439930del , CM000685.2:g.108439930del	GRCh38
NC_000023.10:g.107683160del , CM000685.1:g.107683160del	GRCh37
NC_000023.9:g.107569816del	NCBI36
NG_011977.1:g.5007del
NG_012059.2:g.4550del
NG_011977.2:g.5007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-196del MANE Select	ENSP00000331902.7:n.-196del
ENST00000361603.7:c.-196del	ENSP00000354505.2:n.-196del
ENST00000328300.10:c.-196del	ENSP00000331902.6:n.-196del
ENST00000361603.6:c.-196del	ENSP00000354505.2:n.-196del
ENST00000477429.1:n.87del
NM_000495.4:c.-196del	NP_000486.1:n.-196del
NM_033380.2:c.-196del	NP_203699.1:n.-196del
XM_005262070.2:c.-196del	XP_005262127.1:n.-196del
XM_005262072.3:c.-196del	XP_005262129.1:n.-196del
XM_006724616.2:c.-120-76del	XP_006724679.1:n.-120-76del
XM_011530850.1:c.-196del	XP_011529152.1:n.-196del
NM_000495.5:c.-196del	NP_000486.1:n.-196del
NM_033380.3:c.-196del MANE Select	NP_203699.1:n.-196del