Canonical Allele Identifier: CA869800851

Gene: COL4A5

Linked Data

• dbSNP Id: rs1395954646
• MyVariant Identifiers: chrX:g.107683180_107683196del (hg19) ; chrX:g.108439950_108439966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439956_108439972del , CM000685.2:g.108439956_108439972del	GRCh38
NC_000023.10:g.107683186_107683202del , CM000685.1:g.107683186_107683202del	GRCh37
NC_000023.9:g.107569842_107569858del	NCBI36
NG_011977.1:g.5033_5049del
NG_012059.2:g.4509_4525del
NG_011977.2:g.5033_5049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-170_-154del MANE Select	ENSP00000331902.7:n.-170_-154del
ENST00000361603.7:c.-170_-154del	ENSP00000354505.2:n.-170_-154del
ENST00000642185.1:c.-170_-154del	ENSP00000495101.1:n.-170_-154del
ENST00000328300.10:c.-170_-154del	ENSP00000331902.6:n.-170_-154del
ENST00000361603.6:c.-170_-154del	ENSP00000354505.2:n.-170_-154del
ENST00000470339.1:n.15_31del
ENST00000477429.1:n.113_129del
NM_000495.4:c.-170_-154del	NP_000486.1:n.-170_-154del
NM_033380.2:c.-170_-154del	NP_203699.1:n.-170_-154del
XM_005262070.2:c.-170_-154del	XP_005262127.1:n.-170_-154del
XM_005262072.3:c.-170_-154del	XP_005262129.1:n.-170_-154del
XM_006724616.2:c.-120-50_-120-34del	XP_006724679.1:n.-120-50_-120-34del
XM_011530850.1:c.-170_-154del	XP_011529152.1:n.-170_-154del
NM_000495.5:c.-170_-154del	NP_000486.1:n.-170_-154del
NM_033380.3:c.-170_-154del MANE Select	NP_203699.1:n.-170_-154del