Canonical Allele Identifier: CA833758747

Gene: NUP205

Linked Data

• dbSNP Id: rs1316022934
• gnomAD v3: 7-135645369-TTAAG-T
• gnomAD v4: 7-135645369-TTAAG-T
• MyVariant Identifiers: chr7:g.135330118_135330121del (hg19) ; chr7:g.135645370_135645373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.135645371_135645374del , CM000669.2:g.135645371_135645374del	GRCh38
NC_000007.13:g.135330119_135330122del , CM000669.1:g.135330119_135330122del	GRCh37
NC_000007.12:g.134980659_134980662del	NCBI36
NG_051184.1:g.92458_92461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285968.11:c.5684-97_5684-94del MANE Select	ENSP00000285968.6:n.5684-97_5684-94del
ENST00000285968.10:c.5684-97_5684-94del	ENSP00000285968.6:n.5684-97_5684-94del
ENST00000461255.5:n.891-97_891-94del
ENST00000477620.5:c.1405+393_1405+396del
ENST00000490439.1:c.120+353_120+356del
ENST00000607647.5:n.3962-97_3962-94del
NM_015135.2:c.5684-97_5684-94del	NP_055950.1:n.5684-97_5684-94del
XM_005250235.2:c.4610-97_4610-94del	XP_005250292.1:n.4610-97_4610-94del
NM_001329434.1:c.4610-97_4610-94del	NP_001316363.1:n.4610-97_4610-94del
NM_015135.3:c.5684-97_5684-94del MANE Select	NP_055950.2:n.5684-97_5684-94del
NM_001329434.2:c.4610-97_4610-94del	NP_001316363.2:n.4610-97_4610-94del