Canonical Allele Identifier: CA334058228

Gene: COL4A5

Linked Data

• dbSNP Id: rs979118473
• gnomAD v2: X-107929189-TTATG-T
• gnomAD v3: X-108685959-TTATG-T
• gnomAD v4: X-108685959-TTATG-T
• MyVariant Identifiers: chrX:g.107929190_107929193del (hg19) ; chrX:g.108685960_108685963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108685961_108685964del , CM000685.2:g.108685961_108685964del	GRCh38
NC_000023.10:g.107929191_107929194del , CM000685.1:g.107929191_107929194del	GRCh37
NC_000023.9:g.107815847_107815850del	NCBI36
NG_011977.1:g.251038_251041del
NG_011977.2:g.251038_251041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-70_4217-67del MANE Select	ENSP00000331902.7:n.4217-70_4217-67del
ENST00000361603.7:c.4199-70_4199-67del	ENSP00000354505.2:n.4199-70_4199-67del
ENST00000510690.2:n.711-70_711-67del
ENST00000328300.10:c.4217-70_4217-67del	ENSP00000331902.6:n.4217-70_4217-67del
ENST00000361603.6:c.4199-70_4199-67del	ENSP00000354505.2:n.4199-70_4199-67del
ENST00000489230.1:n.620-70_620-67del
ENST00000515658.1:c.13-70_13-67del
NM_000495.4:c.4199-70_4199-67del	NP_000486.1:n.4199-70_4199-67del
NM_033380.2:c.4217-70_4217-67del	NP_203699.1:n.4217-70_4217-67del
XM_005262070.2:c.4208-70_4208-67del	XP_005262127.1:n.4208-70_4208-67del
XM_006724616.2:c.4217-70_4217-67del	XP_006724679.1:n.4217-70_4217-67del
XM_011530849.1:c.3893-70_3893-67del	XP_011529151.1:n.3893-70_3893-67del
XM_011530851.1:c.1790-70_1790-67del	XP_011529153.1:n.1790-70_1790-67del
XM_011530849.2:c.4232-70_4232-67del	XP_011529151.2:n.4232-70_4232-67del
XM_017029259.2:c.4223-70_4223-67del	XP_016884748.1:n.4223-70_4223-67del
XM_017029260.1:c.4214-70_4214-67del	XP_016884749.1:n.4214-70_4214-67del
XM_017029263.2:c.2552-70_2552-67del	XP_016884752.1:n.2552-70_2552-67del
NM_000495.5:c.4199-70_4199-67del	NP_000486.1:n.4199-70_4199-67del
NM_033380.3:c.4217-70_4217-67del MANE Select	NP_203699.1:n.4217-70_4217-67del