Canonical Allele Identifier: CA1321145648

Gene: TMEM237

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201625848_201625858delinsCCTCCCTGCTT , CM000664.2:g.201625848_201625858delinsCCTCCCTGCTT	GRCh38
NC_000002.11:g.202490571_202490581delinsCCTCCCTGCTT , CM000664.1:g.202490571_202490581delinsCCTCCCTGCTT	GRCh37
NC_000002.10:g.202198816_202198826delinsCCTCCCTGCTT	NCBI36
NG_032049.1:g.22672_22682delinsAAGCAGGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.955+168_955+178delinsAAGCAGGGAGG
ENST00000621467.5:c.1033+168_1033+178delinsAAGCAGGGAGG	ENSP00000480508.2:n.1033+168_1033+178delinsAAGCAGGGAGG
ENST00000686475.1:n.1099+168_1099+178delinsAAGCAGGGAGG
ENST00000409883.7:c.1159+168_1159+178delinsAAGCAGGGAGG MANE Select	ENSP00000386264.2:n.1159+168_1159+178delinsAAGCAGGGAGG
ENST00000286196.9:c.*723+168_*723+178delinsAAGCAGGGAGG	ENSP00000286196.5:n.*723+168_*723+178delinsAAGCAGGGAGG
ENST00000409444.6:c.1135+168_1135+178delinsAAGCAGGGAGG	ENSP00000387203.2:n.1135+168_1135+178delinsAAGCAGGGAGG
ENST00000409883.6:c.1159+168_1159+178delinsAAGCAGGGAGG	ENSP00000386264.2:n.1159+168_1159+178delinsAAGCAGGGAGG
ENST00000471318.5:n.387+168_387+178delinsAAGCAGGGAGG
ENST00000495329.1:n.298+168_298+178delinsAAGCAGGGAGG
ENST00000621467.4:c.1135+168_1135+178delinsAAGCAGGGAGG	ENSP00000480508.1:n.1135+168_1135+178delinsAAGCAGGGAGG
NM_001044385.2:c.1159+168_1159+178delinsAAGCAGGGAGG	NP_001037850.1:n.1159+168_1159+178delinsAAGCAGGGAGG
NM_152388.3:c.1135+168_1135+178delinsAAGCAGGGAGG	NP_689601.2:n.1135+168_1135+178delinsAAGCAGGGAGG
NM_001044385.3:c.1159+168_1159+178delinsAAGCAGGGAGG MANE Select	NP_001037850.1:n.1159+168_1159+178delinsAAGCAGGGAGG
NM_152388.4:c.1135+168_1135+178delinsAAGCAGGGAGG	NP_689601.2:n.1135+168_1135+178delinsAAGCAGGGAGG