Canonical Allele Identifier: CA167066874

Gene: NUP205

Linked Data

• dbSNP Id: rs934889584
• gnomAD v3: 7-135645078-TATTCTC-T
• gnomAD v4: 7-135645078-TATTCTC-T
• MyVariant Identifiers: chr7:g.135329827_135329832del (hg19) ; chr7:g.135645079_135645084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645081_135645086del , CM000669.2:g.135645081_135645086del	GRCh38
NC_000007.13:g.135329829_135329834del , CM000669.1:g.135329829_135329834del	GRCh37
NC_000007.12:g.134980369_134980374del	NCBI36
NG_051184.1:g.92168_92173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5683+63_5683+68del MANE Select	ENSP00000285968.6:n.5683+63_5683+68del
ENST00000285968.10:c.5683+63_5683+68del	ENSP00000285968.6:n.5683+63_5683+68del
ENST00000461255.5:n.890+63_890+68del
ENST00000477620.5:c.1405+103_1405+108del
ENST00000490439.1:c.120+63_120+68del
ENST00000607647.5:n.3961+63_3961+68del
NM_015135.2:c.5683+63_5683+68del	NP_055950.1:n.5683+63_5683+68del
XM_005250235.2:c.4609+63_4609+68del	XP_005250292.1:n.4609+63_4609+68del
NM_001329434.1:c.4609+63_4609+68del	NP_001316363.1:n.4609+63_4609+68del
NM_015135.3:c.5683+63_5683+68del MANE Select	NP_055950.2:n.5683+63_5683+68del
NM_001329434.2:c.4609+63_4609+68del	NP_001316363.2:n.4609+63_4609+68del