Canonical Allele Identifier: CA2694411396

Gene: COL4A5

Linked Data

• gnomAD v4: X-108575855-ATAAGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108575856_108575861del , CM000685.2:g.108575856_108575861del	GRCh38
NC_000023.10:g.107819086_107819091del , CM000685.1:g.107819086_107819091del	GRCh37
NC_000023.9:g.107705742_107705747del	NCBI36
NG_011977.1:g.140933_140938del
NG_011977.2:g.140933_140938del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.547-54_547-49del MANE Select	ENSP00000331902.7:n.547-54_547-49del
ENST00000361603.7:c.547-54_547-49del	ENSP00000354505.2:n.547-54_547-49del
ENST00000328300.10:c.547-54_547-49del	ENSP00000331902.6:n.547-54_547-49del
ENST00000361603.6:c.547-54_547-49del	ENSP00000354505.2:n.547-54_547-49del
NM_000495.4:c.547-54_547-49del	NP_000486.1:n.547-54_547-49del
NM_033380.2:c.547-54_547-49del	NP_203699.1:n.547-54_547-49del
XM_005262070.2:c.547-54_547-49del	XP_005262127.1:n.547-54_547-49del
XM_005262072.3:c.547-54_547-49del	XP_005262129.1:n.547-54_547-49del
XM_006724616.2:c.547-54_547-49del	XP_006724679.1:n.547-54_547-49del
XM_011530849.1:c.223-54_223-49del	XP_011529151.1:n.223-54_223-49del
XM_011530850.1:c.547-54_547-49del	XP_011529152.1:n.547-54_547-49del
XM_011530849.2:c.562-54_562-49del	XP_011529151.2:n.562-54_562-49del
XM_017029259.2:c.562-54_562-49del	XP_016884748.1:n.562-54_562-49del
XM_017029260.1:c.562-54_562-49del	XP_016884749.1:n.562-54_562-49del
XM_017029261.1:c.562-54_562-49del	XP_016884750.1:n.562-54_562-49del
XM_017029262.2:c.562-54_562-49del	XP_016884751.1:n.562-54_562-49del
NM_000495.5:c.547-54_547-49del	NP_000486.1:n.547-54_547-49del
NM_033380.3:c.547-54_547-49del MANE Select	NP_203699.1:n.547-54_547-49del