Canonical Allele Identifier: CA2694414668

Gene: COL4A5

Linked Data

• gnomAD v4: X-108685919-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108685921_108685923del , CM000685.2:g.108685921_108685923del	GRCh38
NC_000023.10:g.107929151_107929153del , CM000685.1:g.107929151_107929153del	GRCh37
NC_000023.9:g.107815807_107815809del	NCBI36
NG_011977.1:g.250998_251000del
NG_011977.2:g.250998_251000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-110_4217-108del MANE Select	ENSP00000331902.7:n.4217-110_4217-108del
ENST00000361603.7:c.4199-110_4199-108del	ENSP00000354505.2:n.4199-110_4199-108del
ENST00000510690.2:n.711-110_711-108del
ENST00000328300.10:c.4217-110_4217-108del	ENSP00000331902.6:n.4217-110_4217-108del
ENST00000361603.6:c.4199-110_4199-108del	ENSP00000354505.2:n.4199-110_4199-108del
ENST00000489230.1:n.620-110_620-108del
ENST00000515658.1:c.13-110_13-108del
NM_000495.4:c.4199-110_4199-108del	NP_000486.1:n.4199-110_4199-108del
NM_033380.2:c.4217-110_4217-108del	NP_203699.1:n.4217-110_4217-108del
XM_005262070.2:c.4208-110_4208-108del	XP_005262127.1:n.4208-110_4208-108del
XM_006724616.2:c.4217-110_4217-108del	XP_006724679.1:n.4217-110_4217-108del
XM_011530849.1:c.3893-110_3893-108del	XP_011529151.1:n.3893-110_3893-108del
XM_011530851.1:c.1790-110_1790-108del	XP_011529153.1:n.1790-110_1790-108del
XM_011530849.2:c.4232-110_4232-108del	XP_011529151.2:n.4232-110_4232-108del
XM_017029259.2:c.4223-110_4223-108del	XP_016884748.1:n.4223-110_4223-108del
XM_017029260.1:c.4214-110_4214-108del	XP_016884749.1:n.4214-110_4214-108del
XM_017029263.2:c.2552-110_2552-108del	XP_016884752.1:n.2552-110_2552-108del
NM_000495.5:c.4199-110_4199-108del	NP_000486.1:n.4199-110_4199-108del
NM_033380.3:c.4217-110_4217-108del MANE Select	NP_203699.1:n.4217-110_4217-108del