Canonical Allele Identifier: CA2694438196

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439899-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439900del , CM000685.2:g.108439900del	GRCh38
NC_000023.10:g.107683130del , CM000685.1:g.107683130del	GRCh37
NC_000023.9:g.107569786del	NCBI36
NG_011977.1:g.4977del
NG_012059.2:g.4575del
NG_011977.2:g.4977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-226del MANE Select	ENSP00000331902.7:n.-226del
ENST00000328300.10:c.-226del	ENSP00000331902.6:n.-226del
ENST00000361603.6:c.-226del	ENSP00000354505.2:n.-226del
ENST00000477429.1:n.57del
NM_000495.4:c.-226del	NP_000486.1:n.-226del
NM_033380.2:c.-226del	NP_203699.1:n.-226del
XM_005262070.2:c.-226del	XP_005262127.1:n.-226del
XM_005262072.3:c.-226del	XP_005262129.1:n.-226del
XM_006724616.2:c.-120-106del	XP_006724679.1:n.-120-106del
XM_011530850.1:c.-226del	XP_011529152.1:n.-226del
NM_000495.5:c.-226del	NP_000486.1:n.-226del
NM_033380.3:c.-226del MANE Select	NP_203699.1:n.-226del