Canonical Allele Identifier: CA869828617

Gene: COL4A5

Linked Data

• dbSNP Id: rs1382803618
• gnomAD v3: X-108696460-CAA-C
• gnomAD v4: X-108696460-CAA-C
• MyVariant Identifiers: chrX:g.107939691_107939692del (hg19) ; chrX:g.108696461_108696462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696461_108696462del , CM000685.2:g.108696461_108696462del	GRCh38
NC_000023.10:g.107939691_107939692del , CM000685.1:g.107939691_107939692del	GRCh37
NC_000023.9:g.107826347_107826348del	NCBI36
NG_011977.1:g.261538_261539del
NG_011977.2:g.261538_261539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*83_*84del MANE Select	ENSP00000331902.7:n.*83_*84del
ENST00000361603.7:c.*83_*84del	ENSP00000354505.2:n.*83_*84del
ENST00000644079.1:n.2847_2848del
ENST00000328300.10:c.*83_*84del	ENSP00000331902.6:n.*83_*84del
ENST00000361603.6:c.*83_*84del	ENSP00000354505.2:n.*83_*84del
ENST00000504541.1:c.384_385del	ENSP00000424845.1:n.384_385del
ENST00000515658.1:c.489_490del
NM_000495.4:c.*83_*84del	NP_000486.1:n.*83_*84del
NM_033380.2:c.*83_*84del	NP_203699.1:n.*83_*84del
XM_005262070.2:c.*83_*84del	XP_005262127.1:n.*83_*84del
XM_006724616.2:c.*83_*84del	XP_006724679.1:n.*83_*84del
XM_011530849.1:c.*83_*84del	XP_011529151.1:n.*83_*84del
XM_011530851.1:c.*83_*84del	XP_011529153.1:n.*83_*84del
XM_011530849.2:c.*83_*84del	XP_011529151.2:n.*83_*84del
XM_017029259.2:c.*83_*84del	XP_016884748.1:n.*83_*84del
XM_017029260.1:c.*83_*84del	XP_016884749.1:n.*83_*84del
XM_017029263.2:c.*83_*84del	XP_016884752.1:n.*83_*84del
NM_000495.5:c.*83_*84del	NP_000486.1:n.*83_*84del
NM_033380.3:c.*83_*84del MANE Select	NP_203699.1:n.*83_*84del