Canonical Allele Identifier: CA167066900

Gene: NUP205

Linked Data

• dbSNP Id: rs568234277
• gnomAD v2: 7-135330064-TGAG-T
• gnomAD v3: 7-135645316-TGAG-T
• gnomAD v4: 7-135645316-TGAG-T
• MyVariant Identifiers: chr7:g.135330065_135330067del (hg19) ; chr7:g.135645317_135645319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645320_135645322del , CM000669.2:g.135645320_135645322del	GRCh38
NC_000007.13:g.135330068_135330070del , CM000669.1:g.135330068_135330070del	GRCh37
NC_000007.12:g.134980608_134980610del	NCBI36
NG_051184.1:g.92407_92409del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285968.11:c.5684-148_5684-146del MANE Select	ENSP00000285968.6:n.5684-148_5684-146del
ENST00000285968.10:c.5684-148_5684-146del	ENSP00000285968.6:n.5684-148_5684-146del
ENST00000461255.5:n.891-148_891-146del
ENST00000477620.5:c.1405+342_1405+344del
ENST00000490439.1:c.120+302_120+304del
ENST00000607647.5:n.3962-148_3962-146del
NM_015135.2:c.5684-148_5684-146del	NP_055950.1:n.5684-148_5684-146del
XM_005250235.2:c.4610-148_4610-146del	XP_005250292.1:n.4610-148_4610-146del
NM_001329434.1:c.4610-148_4610-146del	NP_001316363.1:n.4610-148_4610-146del
NM_015135.3:c.5684-148_5684-146del MANE Select	NP_055950.2:n.5684-148_5684-146del
NM_001329434.2:c.4610-148_4610-146del	NP_001316363.2:n.4610-148_4610-146del