Canonical Allele Identifier: CA2450717255

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681868_108681872delinsAAGGA , CM000685.2:g.108681868_108681872delinsAAGGA	GRCh38
NC_000023.10:g.107925098_107925102delinsAAGGA , CM000685.1:g.107925098_107925102delinsAAGGA	GRCh37
NC_000023.9:g.107811754_107811758delinsAAGGA	NCBI36
NG_011977.1:g.246945_246949delinsAAGGA
NG_011977.2:g.246945_246949delinsAAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4196_4200delinsAAGGA MANE Select	ENSP00000331902.7:p.Gln1399=
ENST00000361603.7:c.4178_4182delinsAAGGA	ENSP00000354505.2:p.Gln1393=
ENST00000510690.2:n.690_694delinsAAGGA
ENST00000328300.10:c.4196_4200delinsAAGGA	ENSP00000331902.6:p.Gln1399=
ENST00000361603.6:c.4178_4182delinsAAGGA	ENSP00000354505.2:p.Gln1393=
ENST00000489230.1:n.599_603delinsAAGGA
NM_000495.4:c.4178_4182delinsAAGGA	NP_000486.1:p.Gln1393=
NM_033380.2:c.4196_4200delinsAAGGA	NP_203699.1:p.Gln1399=
XM_005262070.2:c.4187_4191delinsAAGGA	XP_005262127.1:p.Gln1396=
XM_006724616.2:c.4196_4200delinsAAGGA	XP_006724679.1:p.Gln1399=
XM_011530849.1:c.3872_3876delinsAAGGA	XP_011529151.1:p.Gln1291=
XM_011530851.1:c.1769_1773delinsAAGGA	XP_011529153.1:p.Gln590=
XM_011530849.2:c.4211_4215delinsAAGGA	XP_011529151.2:p.Gln1404=
XM_017029259.2:c.4202_4206delinsAAGGA	XP_016884748.1:p.Gln1401=
XM_017029260.1:c.4193_4197delinsAAGGA	XP_016884749.1:p.Gln1398=
XM_017029263.2:c.2531_2535delinsAAGGA	XP_016884752.1:p.Gln844=
NM_000495.5:c.4178_4182delinsAAGGA	NP_000486.1:p.Gln1393=
NM_033380.3:c.4196_4200delinsAAGGA MANE Select	NP_203699.1:p.Gln1399=