Canonical Allele Identifier: CA2695235223

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108622711_108622716del , CM000685.2:g.108622711_108622716del	GRCh38
NC_000023.10:g.107865941_107865946del , CM000685.1:g.107865941_107865946del	GRCh37
NC_000023.9:g.107752597_107752602del	NCBI36
NG_011977.1:g.187788_187793del
NG_011977.2:g.187788_187793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2803_2808del MANE Select	ENSP00000331902.7:p.Gly935_Pro936del
ENST00000361603.7:c.2803_2808del	ENSP00000354505.2:p.Gly935_Pro936del
ENST00000328300.10:c.2803_2808del	ENSP00000331902.6:p.Gly935_Pro936del
ENST00000361603.6:c.2803_2808del	ENSP00000354505.2:p.Gly935_Pro936del
ENST00000483338.1:n.2259_2264del
ENST00000505728.1:c.36_41del
NM_000495.4:c.2803_2808del	NP_000486.1:p.Gly935_Pro936del
NM_033380.2:c.2803_2808del	NP_203699.1:p.Gly935_Pro936del
XM_005262070.2:c.2803_2808del	XP_005262127.1:p.Gly935_Pro936del
XM_005262072.3:c.2803_2808del	XP_005262129.1:p.Gly935_Pro936del
XM_006724616.2:c.2803_2808del	XP_006724679.1:p.Gly935_Pro936del
XM_011530849.1:c.2479_2484del	XP_011529151.1:p.Gly827_Pro828del
XM_011530850.1:c.2803_2808del	XP_011529152.1:p.Gly935_Pro936del
XM_011530851.1:c.376_381del	XP_011529153.1:p.Gly126_Pro127del
XM_011530849.2:c.2818_2823del	XP_011529151.2:p.Gly940_Pro941del
XM_017029259.2:c.2818_2823del	XP_016884748.1:p.Gly940_Pro941del
XM_017029260.1:c.2818_2823del	XP_016884749.1:p.Gly940_Pro941del
XM_017029261.1:c.2818_2823del	XP_016884750.1:p.Gly940_Pro941del
XM_017029262.2:c.2818_2823del	XP_016884751.1:p.Gly940_Pro941del
XM_017029263.2:c.1138_1143del	XP_016884752.1:p.Gly380_Pro381del
NM_000495.5:c.2803_2808del	NP_000486.1:p.Gly935_Pro936del
NM_033380.3:c.2803_2808del MANE Select	NP_203699.1:p.Gly935_Pro936del