Canonical Allele Identifier: CA334058897

Gene: COL4A5

Linked Data

• dbSNP Id: rs774767996
• gnomAD v2: X-107930598-CTA-C
• gnomAD v3: X-108687368-CTA-C
• gnomAD v4: X-108687368-CTA-C
• MyVariant Identifiers: chrX:g.107930599_107930600del (hg19) ; chrX:g.108687369_108687370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687371_108687372del , CM000685.2:g.108687371_108687372del	GRCh38
NC_000023.10:g.107930601_107930602del , CM000685.1:g.107930601_107930602del	GRCh37
NC_000023.9:g.107817257_107817258del	NCBI36
NG_011977.1:g.252448_252449del
NG_011977.2:g.252448_252449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4316-111_4316-110del MANE Select	ENSP00000331902.7:n.4316-111_4316-110del
ENST00000361603.7:c.4298-111_4298-110del	ENSP00000354505.2:n.4298-111_4298-110del
ENST00000510690.2:n.810-111_810-110del
ENST00000328300.10:c.4316-111_4316-110del	ENSP00000331902.6:n.4316-111_4316-110del
ENST00000361603.6:c.4298-111_4298-110del	ENSP00000354505.2:n.4298-111_4298-110del
ENST00000489230.1:n.719-111_719-110del
ENST00000515658.1:c.112-111_112-110del
NM_000495.4:c.4298-111_4298-110del	NP_000486.1:n.4298-111_4298-110del
NM_033380.2:c.4316-111_4316-110del	NP_203699.1:n.4316-111_4316-110del
XM_005262070.2:c.4307-111_4307-110del	XP_005262127.1:n.4307-111_4307-110del
XM_006724616.2:c.4316-111_4316-110del	XP_006724679.1:n.4316-111_4316-110del
XM_011530849.1:c.3992-111_3992-110del	XP_011529151.1:n.3992-111_3992-110del
XM_011530851.1:c.1889-111_1889-110del	XP_011529153.1:n.1889-111_1889-110del
XM_011530849.2:c.4331-111_4331-110del	XP_011529151.2:n.4331-111_4331-110del
XM_017029259.2:c.4322-111_4322-110del	XP_016884748.1:n.4322-111_4322-110del
XM_017029260.1:c.4313-111_4313-110del	XP_016884749.1:n.4313-111_4313-110del
XM_017029263.2:c.2651-111_2651-110del	XP_016884752.1:n.2651-111_2651-110del
NM_000495.5:c.4298-111_4298-110del	NP_000486.1:n.4298-111_4298-110del
NM_033380.3:c.4316-111_4316-110del MANE Select	NP_203699.1:n.4316-111_4316-110del