Canonical Allele Identifier: CA2450721591

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694864_108694871delinsGATTCCCC , CM000685.2:g.108694864_108694871delinsGATTCCCC	GRCh38
NC_000023.10:g.107938094_107938101delinsGATTCCCC , CM000685.1:g.107938094_107938101delinsGATTCCCC	GRCh37
NC_000023.9:g.107824750_107824757delinsGATTCCCC	NCBI36
NG_011977.1:g.259941_259948delinsGATTCCCC
NG_011977.2:g.259941_259948delinsGATTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4764_4771delinsGATTCCCC MANE Select	ENSP00000331902.7:p.Gln1588=
ENST00000361603.7:c.4746_4753delinsGATTCCCC	ENSP00000354505.2:p.Gln1582=
ENST00000510690.2:n.1258_1265delinsGATTCCCC
ENST00000644079.1:n.1250_1257delinsGATTCCCC
ENST00000328300.10:c.4764_4771delinsGATTCCCC	ENSP00000331902.6:p.Gln1588=
ENST00000361603.6:c.4746_4753delinsGATTCCCC	ENSP00000354505.2:p.Gln1582=
ENST00000504541.1:c.162_169delinsGATTCCCC	ENSP00000424845.1:p.Gln54=
ENST00000515658.1:c.325-1433_325-1426delinsGATTCCCC
NM_000495.4:c.4746_4753delinsGATTCCCC	NP_000486.1:p.Gln1582=
NM_033380.2:c.4764_4771delinsGATTCCCC	NP_203699.1:p.Gln1588=
XM_005262070.2:c.4755_4762delinsGATTCCCC	XP_005262127.1:p.Gln1585=
XM_006724616.2:c.4764_4771delinsGATTCCCC	XP_006724679.1:p.Gln1588=
XM_011530849.1:c.4440_4447delinsGATTCCCC	XP_011529151.1:p.Gln1480=
XM_011530851.1:c.2337_2344delinsGATTCCCC	XP_011529153.1:p.Gln779=
XM_011530849.2:c.4779_4786delinsGATTCCCC	XP_011529151.2:p.Gln1593=
XM_017029259.2:c.4770_4777delinsGATTCCCC	XP_016884748.1:p.Gln1590=
XM_017029260.1:c.4761_4768delinsGATTCCCC	XP_016884749.1:p.Gln1587=
XM_017029263.2:c.3099_3106delinsGATTCCCC	XP_016884752.1:p.Gln1033=
NM_000495.5:c.4746_4753delinsGATTCCCC	NP_000486.1:p.Gln1582=
NM_033380.3:c.4764_4771delinsGATTCCCC MANE Select	NP_203699.1:p.Gln1588=