Canonical Allele Identifier: CA643637151

Gene: COL4A5

Linked Data

• dbSNP Id: rs1174577234
• gnomAD v2: X-107930336-T-TTC
• gnomAD v3: X-108687106-T-TTC
• gnomAD v4: X-108687106-T-TTC
• MyVariant Identifiers: chrX:g.107930336_107930337insTC (hg19) ; chrX:g.108687106_108687107insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687110_108687111dup , CM000685.2:g.108687110_108687111dup	GRCh38
NC_000023.10:g.107930340_107930341dup , CM000685.1:g.107930340_107930341dup	GRCh37
NC_000023.9:g.107816996_107816997dup	NCBI36
NG_011977.1:g.252187_252188dup
NG_011977.2:g.252187_252188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4316-372_4316-371dup MANE Select	ENSP00000331902.7:n.4316-372_4316-371dup
ENST00000361603.7:c.4298-372_4298-371dup	ENSP00000354505.2:n.4298-372_4298-371dup
ENST00000510690.2:n.810-372_810-371dup
ENST00000328300.10:c.4316-372_4316-371dup	ENSP00000331902.6:n.4316-372_4316-371dup
ENST00000361603.6:c.4298-372_4298-371dup	ENSP00000354505.2:n.4298-372_4298-371dup
ENST00000489230.1:n.719-372_719-371dup
ENST00000515658.1:c.112-372_112-371dup
NM_000495.4:c.4298-372_4298-371dup	NP_000486.1:n.4298-372_4298-371dup
NM_033380.2:c.4316-372_4316-371dup	NP_203699.1:n.4316-372_4316-371dup
XM_005262070.2:c.4307-372_4307-371dup	XP_005262127.1:n.4307-372_4307-371dup
XM_006724616.2:c.4316-372_4316-371dup	XP_006724679.1:n.4316-372_4316-371dup
XM_011530849.1:c.3992-372_3992-371dup	XP_011529151.1:n.3992-372_3992-371dup
XM_011530851.1:c.1889-372_1889-371dup	XP_011529153.1:n.1889-372_1889-371dup
XM_011530849.2:c.4331-372_4331-371dup	XP_011529151.2:n.4331-372_4331-371dup
XM_017029259.2:c.4322-372_4322-371dup	XP_016884748.1:n.4322-372_4322-371dup
XM_017029260.1:c.4313-372_4313-371dup	XP_016884749.1:n.4313-372_4313-371dup
XM_017029263.2:c.2651-372_2651-371dup	XP_016884752.1:n.2651-372_2651-371dup
NM_000495.5:c.4298-372_4298-371dup	NP_000486.1:n.4298-372_4298-371dup
NM_033380.3:c.4316-372_4316-371dup MANE Select	NP_203699.1:n.4316-372_4316-371dup