Canonical Allele Identifier: CA527612293

Gene: NCF2 SMG7

Linked Data

• dbSNP Id: rs1362772182
• gnomAD v2: 1-183559819-TTC-T
• gnomAD v3: 1-183590684-TTC-T
• gnomAD v4: 1-183590684-TTC-T
• MyVariant Identifiers: chr1:g.183559820_183559821del (hg19) ; chr1:g.183590685_183590686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183590691_183590692del , CM000663.2:g.183590691_183590692del	GRCh38
NC_000001.10:g.183559826_183559827del , CM000663.1:g.183559826_183559827del	GRCh37
NC_000001.9:g.181826449_181826450del	NCBI36
NG_007267.1:g.4896_4897del , LRG_88:g.4896_4897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697330.1:c.-31+154_-31+155del (NCF2)	ENSP00000513258.1:n.-31+154_-31+155del
ENST00000697353.1:n.20_21del (NCF2)
ENST00000367536.5:c.-31+154_-31+155del (NCF2)	ENSP00000356506.1:n.-31+154_-31+155del
ENST00000495321.1:n.234-7078_234-7077del (SMG7)
NM_001127651.2:c.-31+154_-31+155del (NCF2)	NP_001121123.1:n.-31+154_-31+155del
XM_011509580.1:c.-94_-93del (NCF2)	XP_011507882.1:n.-94_-93del
NM_001127651.3:c.-31+154_-31+155del (NCF2)	NP_001121123.1:n.-31+154_-31+155del