Canonical Allele Identifier: CA334045807

Gene: COL4A5

Linked Data

• dbSNP Id: rs757290607
• gnomAD v4: X-108666631-TTC-T
• MyVariant Identifiers: chrX:g.107909862_107909863del (hg19) ; chrX:g.108666632_108666633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666635_108666636del , CM000685.2:g.108666635_108666636del	GRCh38
NC_000023.10:g.107909865_107909866del , CM000685.1:g.107909865_107909866del	GRCh37
NC_000023.9:g.107796521_107796522del	NCBI36
NG_011977.1:g.231712_231713del
NG_011977.2:g.231712_231713del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3553+41_3553+42del MANE Select	ENSP00000331902.7:n.3553+41_3553+42del
ENST00000361603.7:c.3553+41_3553+42del	ENSP00000354505.2:n.3553+41_3553+42del
ENST00000328300.10:c.3553+41_3553+42del	ENSP00000331902.6:n.3553+41_3553+42del
ENST00000361603.6:c.3553+41_3553+42del	ENSP00000354505.2:n.3553+41_3553+42del
NM_000495.4:c.3553+41_3553+42del	NP_000486.1:n.3553+41_3553+42del
NM_033380.2:c.3553+41_3553+42del	NP_203699.1:n.3553+41_3553+42del
XM_005262070.2:c.3553+41_3553+42del	XP_005262127.1:n.3553+41_3553+42del
XM_006724616.2:c.3553+41_3553+42del	XP_006724679.1:n.3553+41_3553+42del
XM_011530849.1:c.3229+41_3229+42del	XP_011529151.1:n.3229+41_3229+42del
XM_011530850.1:c.3553+41_3553+42del	XP_011529152.1:n.3553+41_3553+42del
XM_011530851.1:c.1126+41_1126+42del	XP_011529153.1:n.1126+41_1126+42del
XM_011530849.2:c.3568+41_3568+42del	XP_011529151.2:n.3568+41_3568+42del
XM_017029259.2:c.3568+41_3568+42del	XP_016884748.1:n.3568+41_3568+42del
XM_017029260.1:c.3568+41_3568+42del	XP_016884749.1:n.3568+41_3568+42del
XM_017029261.1:c.3568+41_3568+42del	XP_016884750.1:n.3568+41_3568+42del
XM_017029262.2:c.3568+41_3568+42del	XP_016884751.1:n.3568+41_3568+42del
XM_017029263.2:c.1888+41_1888+42del	XP_016884752.1:n.1888+41_1888+42del
NM_000495.5:c.3553+41_3553+42del	NP_000486.1:n.3553+41_3553+42del
NM_033380.3:c.3553+41_3553+42del MANE Select	NP_203699.1:n.3553+41_3553+42del