Canonical Allele Identifier: CA2524163768

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439905_108439906del , CM000685.2:g.108439905_108439906del	GRCh38
NC_000023.10:g.107683135_107683136del , CM000685.1:g.107683135_107683136del	GRCh37
NC_000023.9:g.107569791_107569792del	NCBI36
NG_011977.1:g.4982_4983del
NG_012059.2:g.4573_4574del
NG_011977.2:g.4982_4983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-221_-220del MANE Select	ENSP00000331902.7:n.-221_-220del
ENST00000328300.10:c.-221_-220del	ENSP00000331902.6:n.-221_-220del
ENST00000361603.6:c.-221_-220del	ENSP00000354505.2:n.-221_-220del
ENST00000477429.1:n.62_63del
NM_000495.4:c.-221_-220del	NP_000486.1:n.-221_-220del
NM_033380.2:c.-221_-220del	NP_203699.1:n.-221_-220del
XM_005262070.2:c.-221_-220del	XP_005262127.1:n.-221_-220del
XM_005262072.3:c.-221_-220del	XP_005262129.1:n.-221_-220del
XM_006724616.2:c.-120-101_-120-100del	XP_006724679.1:n.-120-101_-120-100del
XM_011530850.1:c.-221_-220del	XP_011529152.1:n.-221_-220del
NM_000495.5:c.-221_-220del	NP_000486.1:n.-221_-220del
NM_033380.3:c.-221_-220del MANE Select	NP_203699.1:n.-221_-220del