Canonical Allele Identifier: CA2450721583

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694846_108694848delinsTCA , CM000685.2:g.108694846_108694848delinsTCA	GRCh38
NC_000023.10:g.107938076_107938078delinsTCA , CM000685.1:g.107938076_107938078delinsTCA	GRCh37
NC_000023.9:g.107824732_107824734delinsTCA	NCBI36
NG_011977.1:g.259923_259925delinsTCA
NG_011977.2:g.259923_259925delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4746_4748delinsTCA MANE Select	ENSP00000331902.7:p.Val1582=
ENST00000361603.7:c.4728_4730delinsTCA	ENSP00000354505.2:p.Val1576=
ENST00000510690.2:n.1240_1242delinsTCA
ENST00000644079.1:n.1232_1234delinsTCA
ENST00000328300.10:c.4746_4748delinsTCA	ENSP00000331902.6:p.Val1582=
ENST00000361603.6:c.4728_4730delinsTCA	ENSP00000354505.2:p.Val1576=
ENST00000504541.1:c.144_146delinsTCA	ENSP00000424845.1:p.Val48=
ENST00000515658.1:c.325-1451_325-1449delinsTCA
NM_000495.4:c.4728_4730delinsTCA	NP_000486.1:p.Val1576=
NM_033380.2:c.4746_4748delinsTCA	NP_203699.1:p.Val1582=
XM_005262070.2:c.4737_4739delinsTCA	XP_005262127.1:p.Val1579=
XM_006724616.2:c.4746_4748delinsTCA	XP_006724679.1:p.Val1582=
XM_011530849.1:c.4422_4424delinsTCA	XP_011529151.1:p.Val1474=
XM_011530851.1:c.2319_2321delinsTCA	XP_011529153.1:p.Val773=
XM_011530849.2:c.4761_4763delinsTCA	XP_011529151.2:p.Val1587=
XM_017029259.2:c.4752_4754delinsTCA	XP_016884748.1:p.Val1584=
XM_017029260.1:c.4743_4745delinsTCA	XP_016884749.1:p.Val1581=
XM_017029263.2:c.3081_3083delinsTCA	XP_016884752.1:p.Val1027=
NM_000495.5:c.4728_4730delinsTCA	NP_000486.1:p.Val1576=
NM_033380.3:c.4746_4748delinsTCA MANE Select	NP_203699.1:p.Val1582=