Canonical Allele Identifier: CA1041262239

Gene: TMEM237 ENO1P4

Linked Data

• dbSNP Id: rs1957724372
• gnomAD v3: 2-201623016-GAA-G
• gnomAD v4: 2-201623016-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623017_201623018del , CM000664.2:g.201623017_201623018del	GRCh38
NC_000002.11:g.202487740_202487741del , CM000664.1:g.202487740_202487741del	GRCh37
NC_000002.10:g.202195985_202195986del	NCBI36
NG_032049.1:g.25512_25513del
NG_051007.1:g.1165_1166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*1237_*1238del (TMEM237)	ENSP00000480508.2:n.*1237_*1238del
ENST00000686475.1:n.2404_2405del (TMEM237)
ENST00000409883.7:c.*1237_*1238del (TMEM237) MANE Select	ENSP00000386264.2:n.*1237_*1238del
ENST00000409444.6:c.*1237_*1238del (TMEM237)	ENSP00000387203.2:n.*1237_*1238del
ENST00000409883.6:c.*1237_*1238del (TMEM237)	ENSP00000386264.2:n.*1237_*1238del
ENST00000416471.2:n.413_414del (ENO1P4)
ENST00000495329.1:n.1603_1604del (TMEM237)
NM_001044385.2:c.*1237_*1238del (TMEM237)	NP_001037850.1:n.*1237_*1238del
NM_152388.3:c.*1237_*1238del (TMEM237)	NP_689601.2:n.*1237_*1238del
NM_001044385.3:c.*1237_*1238del (TMEM237) MANE Select	NP_001037850.1:n.*1237_*1238del
NM_152388.4:c.*1237_*1238del (TMEM237)	NP_689601.2:n.*1237_*1238del