Canonical Allele Identifier: CA2579675647

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440188del , CM000685.2:g.108440188del	GRCh38
NC_000023.10:g.107683418del , CM000685.1:g.107683418del	GRCh37
NC_000023.9:g.107570074del	NCBI36
NG_011977.1:g.5265del
NG_012059.2:g.4291del
NG_011977.2:g.5265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.63del MANE Select	ENSP00000331902.7:p.Gln22SerfsTer22
ENST00000361603.7:c.63del	ENSP00000354505.2:p.Gln22SerfsTer22
ENST00000642185.1:c.63del	ENSP00000495101.1:p.Gln22SerfsTer15
ENST00000328300.10:c.63del	ENSP00000331902.6:p.Gln22SerfsTer22
ENST00000361603.6:c.63del	ENSP00000354505.2:p.Gln22SerfsTer22
ENST00000470339.1:n.247del
ENST00000477429.1:n.345del
NM_000495.4:c.63del	NP_000486.1:p.Gln22SerfsTer22
NM_033380.2:c.63del	NP_203699.1:p.Gln22SerfsTer22
XM_005262070.2:c.63del	XP_005262127.1:p.Gln22SerfsTer22
XM_005262072.3:c.63del	XP_005262129.1:p.Gln22SerfsTer22
XM_006724616.2:c.63del	XP_006724679.1:p.Gln22SerfsTer22
XM_011530850.1:c.63del	XP_011529152.1:p.Gln22SerfsTer22
NM_000495.5:c.63del	NP_000486.1:p.Gln22SerfsTer22
NM_033380.3:c.63del MANE Select	NP_203699.1:p.Gln22SerfsTer22