Canonical Allele Identifier: CA2450721782

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695430_108695431delinsAC , CM000685.2:g.108695430_108695431delinsAC	GRCh38
NC_000023.10:g.107938660_107938661delinsAC , CM000685.1:g.107938660_107938661delinsAC	GRCh37
NC_000023.9:g.107825316_107825317delinsAC	NCBI36
NG_011977.1:g.260507_260508delinsAC
NG_011977.2:g.260507_260508delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4985_4986delinsAC MANE Select	ENSP00000331902.7:p.Asp1662=
ENST00000361603.7:c.4967_4968delinsAC	ENSP00000354505.2:p.Asp1656=
ENST00000510690.2:n.1479_1480delinsAC
ENST00000644079.1:n.1816_1817delinsAC
ENST00000328300.10:c.4985_4986delinsAC	ENSP00000331902.6:p.Asp1662=
ENST00000361603.6:c.4967_4968delinsAC	ENSP00000354505.2:p.Asp1656=
ENST00000504541.1:c.219+509_219+510delinsAC	ENSP00000424845.1:n.219+509_219+510delins...
ENST00000515658.1:c.325-867_325-866delinsAC
NM_000495.4:c.4967_4968delinsAC	NP_000486.1:p.Asp1656=
NM_033380.2:c.4985_4986delinsAC	NP_203699.1:p.Asp1662=
XM_005262070.2:c.4976_4977delinsAC	XP_005262127.1:p.Asp1659=
XM_006724616.2:c.4985_4986delinsAC	XP_006724679.1:p.Asp1662=
XM_011530849.1:c.4661_4662delinsAC	XP_011529151.1:p.Asp1554=
XM_011530851.1:c.2558_2559delinsAC	XP_011529153.1:p.Asp853=
XM_011530849.2:c.5000_5001delinsAC	XP_011529151.2:p.Asp1667=
XM_017029259.2:c.4991_4992delinsAC	XP_016884748.1:p.Asp1664=
XM_017029260.1:c.4982_4983delinsAC	XP_016884749.1:p.Asp1661=
XM_017029263.2:c.3320_3321delinsAC	XP_016884752.1:p.Asp1107=
NM_000495.5:c.4967_4968delinsAC	NP_000486.1:p.Asp1656=
NM_033380.3:c.4985_4986delinsAC MANE Select	NP_203699.1:p.Asp1662=