Canonical Allele Identifier: CA10585949

Gene: AP4B1

Linked Data

• ClinVar Variation Id: 252668
• ClinVar RCV Id: RCV000238851 ; RCV001849351
• dbSNP Id: rs879255397
• gnomAD v4: 1-113901322-C-CT
• MyVariant Identifiers: chr1:g.114443944_114443945insT (hg19) ; chr1:g.113901322_113901323insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113901322_113901323insT , CM000663.2:g.113901322_113901323insT	GRCh38
NC_000001.10:g.114443944_114443945insT , CM000663.1:g.114443944_114443945insT	GRCh37
NC_000001.9:g.114245467_114245468insT	NCBI36
NG_031901.1:g.8797_8798insA
NG_057565.1:g.1704_1705insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369564.6:c.305_306insA	ENSP00000358577.2:p.Asn103GlufsTer20
ENST00000369567.6:c.114-923_114-922insA	ENSP00000358580.1:n.114-923_114-922insA
ENST00000369571.3:c.530_531insA	ENSP00000358584.3:p.Asn178GlufsTer20
ENST00000432415.6:c.114-923_114-922insA	ENSP00000393622.2:n.114-923_114-922insA
ENST00000460653.2:c.530_531insA	ENSP00000518881.1:p.Asn178GlufsTer20
ENST00000484201.6:c.305_306insA	ENSP00000518883.1:p.Asn103GlufsTer20
ENST00000489092.6:c.*198_*199insA	ENSP00000518884.1:n.*198_*199insA
ENST00000489499.6:c.469+432_469+433insA	ENSP00000518882.1:n.469+432_469+433insA
ENST00000713588.1:c.530_531insA	ENSP00000518880.1:p.Asn178GlufsTer20
ENST00000713590.1:c.530_531insA	ENSP00000518886.1:p.Asn178GlufsTer20
ENST00000369569.6:c.530_531insA MANE Select	ENSP00000358582.1:p.Asn178GlufsTer20
ENST00000256658.8:c.530_531insA	ENSP00000256658.4:p.Asn178GlufsTer20
ENST00000369564.5:c.305_306insA	ENSP00000358577.1:p.Asn103GlufsTer20
ENST00000369567.5:c.114-923_114-922insA	ENSP00000358580.1:n.114-923_114-922insA
ENST00000369569.5:c.530_531insA	ENSP00000358582.1:p.Asn178GlufsTer20
ENST00000369571.2:c.530_531insA	ENSP00000358584.2:p.Asn178GlufsTer20
ENST00000432415.5:c.114-923_114-922insA	ENSP00000393622.1:n.114-923_114-922insA
ENST00000472122.1:n.426_427insA
ENST00000484201.5:n.496_497insA
ENST00000489092.5:n.529_530insA
ENST00000489499.5:n.585+432_585+433insA
NM_001253852.1:c.530_531insA	NP_001240781.1:p.Asn178GlufsTer20
NM_001253852.2:c.530_531insA	NP_001240781.1:p.Asn178GlufsTer20
NM_001253853.1:c.233_234insA	NP_001240782.1:p.Asn79GlufsTer20
NM_001253853.2:c.233_234insA	NP_001240782.1:p.Asn79GlufsTer20
NM_001308312.1:c.114-923_114-922insA	NP_001295241.1:n.114-923_114-922insA
NM_006594.3:c.530_531insA	NP_006585.2:p.Asn178GlufsTer20
NM_006594.4:c.530_531insA	NP_006585.2:p.Asn178GlufsTer20
XM_005270381.2:c.530_531insA	XP_005270438.1:p.Asn178GlufsTer20
XM_005270382.3:c.530_531insA	XP_005270439.1:p.Asn178GlufsTer20
XM_011540523.1:c.305_306insA	XP_011538825.1:p.Asn103GlufsTer20
XM_011540524.1:c.305_306insA	XP_011538826.1:p.Asn103GlufsTer20
XM_011540525.1:c.339-923_339-922insA	XP_011538827.1:n.339-923_339-922insA
XM_011540527.1:c.-2+432_-2+433insA	XP_011538829.1:n.-2+432_-2+433insA
XR_246227.1:n.712_713insA
XR_246228.2:n.712_713insA
XM_011540523.3:c.305_306insA	XP_011538825.1:p.Asn103GlufsTer20
XM_011540525.3:c.339-923_339-922insA	XP_011538827.1:n.339-923_339-922insA
XM_017000089.2:c.530_531insA	XP_016855578.1:p.Asn178GlufsTer20
XM_017000090.1:c.114-923_114-922insA	XP_016855579.1:n.114-923_114-922insA
XM_017000091.2:c.339-923_339-922insA	XP_016855580.1:n.339-923_339-922insA
XM_017000092.2:c.-715_-714insA	XP_016855581.1:n.-715_-714insA
XM_017000093.2:c.530_531insA	XP_016855582.1:p.Asn178GlufsTer20
XM_024452422.1:c.339-923_339-922insA	XP_024308190.1:n.339-923_339-922insA
XM_024452423.1:c.530_531insA	XP_024308191.1:p.Asn178GlufsTer20
XM_024452435.1:c.305_306insA	XP_024308203.1:p.Asn103GlufsTer20
XM_024452441.1:c.114-923_114-922insA	XP_024308209.1:n.114-923_114-922insA
XR_001736928.2:n.732_733insA
XR_001736930.2:n.732_733insA
XR_002958805.1:n.732_733insA
XR_002958806.1:n.732_733insA
XR_002958807.1:n.612_613insA
NM_001253852.3:c.530_531insA MANE Select	NP_001240781.1:p.Asn178GlufsTer20
NM_001253853.3:c.233_234insA	NP_001240782.1:p.Asn79GlufsTer20
NM_001308312.2:c.114-923_114-922insA	NP_001295241.1:n.114-923_114-922insA
NM_006594.5:c.530_531insA	NP_006585.2:p.Asn178GlufsTer20