Canonical Allele Identifier: CA87818403

Gene: WDR49

Linked Data

• dbSNP Id: rs200514218
• gnomAD v2: 3-167348780-AT-A
• gnomAD v3: 3-167630992-AT-A
• gnomAD v4: 3-167630992-AT-A
• MyVariant Identifiers: chr3:g.167348781del (hg19) ; chr3:g.167630993del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.167630996del , CM000665.2:g.167630996del	GRCh38
NC_000003.11:g.167348784del , CM000665.1:g.167348784del	GRCh37
NC_000003.10:g.168831478del	NCBI36
NG_053014.1:g.32011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647816.2:c.166-3701del	ENSP00000497120.1:n.166-3701del
ENST00000682715.1:c.166-3701del MANE Select	ENSP00000507497.1:n.166-3701del
ENST00000647816.1:c.166-3701del	ENSP00000497120.1:n.166-3701del
ENST00000308378.7:c.-66+22268del	ENSP00000311343.3:n.-66+22268del
ENST00000460448.5:c.165+22268del	ENSP00000417090.1:n.165+22268del
ENST00000466760.5:c.165+22268del	ENSP00000418718.1:n.165+22268del
ENST00000471198.1:n.410+2416del
ENST00000479765.5:c.166-3701del	ENSP00000419749.1:n.166-3701del
ENST00000488012.5:c.166-9350del	ENSP00000419917.1:n.166-9350del
NM_178824.3:c.-66+22268del	NP_849146.1:n.-66+22268del
NM_001348951.1:c.166-3701del	NP_001335880.1:n.166-3701del
NM_001348952.1:c.166-3701del	NP_001335881.1:n.166-3701del
NM_001366157.1:c.166-3701del MANE Select	NP_001353086.1:n.166-3701del
NM_001366158.1:c.-66+22268del	NP_001353087.1:n.-66+22268del
NM_001348951.2:c.166-3701del	NP_001335880.1:n.166-3701del
NM_001348952.2:c.166-3701del	NP_001335881.1:n.166-3701del