Canonical Allele Identifier: CA2694412263

Gene: COL4A5

Linked Data

• gnomAD v4: X-108578311-CCCACCTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108578322_108578330del , CM000685.2:g.108578322_108578330del	GRCh38
NC_000023.10:g.107821552_107821560del , CM000685.1:g.107821552_107821560del	GRCh37
NC_000023.9:g.107708208_107708216del	NCBI36
NG_011977.1:g.143399_143407del
NG_011977.2:g.143399_143407del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.719_727del MANE Select	ENSP00000331902.7:p.Pro240_Gly242del
ENST00000361603.7:c.719_727del	ENSP00000354505.2:p.Pro240_Gly242del
ENST00000328300.10:c.719_727del	ENSP00000331902.6:p.Pro240_Gly242del
ENST00000361603.6:c.719_727del	ENSP00000354505.2:p.Pro240_Gly242del
NM_000495.4:c.719_727del	NP_000486.1:p.Pro240_Gly242del
NM_033380.2:c.719_727del	NP_203699.1:p.Pro240_Gly242del
XM_005262070.2:c.719_727del	XP_005262127.1:p.Pro240_Gly242del
XM_005262072.3:c.719_727del	XP_005262129.1:p.Pro240_Gly242del
XM_006724616.2:c.719_727del	XP_006724679.1:p.Pro240_Gly242del
XM_011530849.1:c.395_403del	XP_011529151.1:p.Pro132_Gly134del
XM_011530850.1:c.719_727del	XP_011529152.1:p.Pro240_Gly242del
XM_011530849.2:c.734_742del	XP_011529151.2:p.Pro245_Gly247del
XM_017029259.2:c.734_742del	XP_016884748.1:p.Pro245_Gly247del
XM_017029260.1:c.734_742del	XP_016884749.1:p.Pro245_Gly247del
XM_017029261.1:c.734_742del	XP_016884750.1:p.Pro245_Gly247del
XM_017029262.2:c.734_742del	XP_016884751.1:p.Pro245_Gly247del
NM_000495.5:c.719_727del	NP_000486.1:p.Pro240_Gly242del
NM_033380.3:c.719_727del MANE Select	NP_203699.1:p.Pro240_Gly242del