Canonical Allele Identifier: CA2143910834

Gene: TMEM229B GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67512896_67512897delinsAC , CM000676.2:g.67512896_67512897delinsAC	GRCh38
NC_000014.8:g.67979613_67979614delinsAC , CM000676.1:g.67979613_67979614delinsAC	GRCh37
NC_000014.7:g.67049366_67049367delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357461.7:c.-192+2189_-192+2190delinsGT (TMEM229B)	ENSP00000350050.2:n.-192+2189_-192+2190delinsGT
ENST00000554278.6:c.-192+20739_-192+20740delinsGT (TMEM229B)	ENSP00000452402.2:n.-192+20739_-192+20740delinsGT
ENST00000555994.6:c.-257+2189_-257+2190delinsGT (TMEM229B)	ENSP00000452144.2:n.-257+2189_-257+2190delinsGT
ENST00000557006.6:c.-257+2548_-257+2549delinsGT (TMEM229B)	ENSP00000451774.1:n.-257+2548_-257+2549delinsGT
ENST00000357461.6:c.-192+2189_-192+2190delinsGT (TMEM229B)	ENSP00000350050.2:n.-192+2189_-192+2190delinsGT
ENST00000554278.5:c.-192+20739_-192+20740delinsGT (TMEM229B)	ENSP00000452402.1:n.-192+20739_-192+20740delinsGT
ENST00000555638.5:c.-192+2548_-192+2549delinsGT (TMEM229B)	ENSP00000452201.1:n.-192+2548_-192+2549delinsGT
ENST00000555994.5:c.-257+2189_-257+2190delinsGT (TMEM229B)	ENSP00000452144.1:n.-257+2189_-257+2190delinsGT
ENST00000557006.5:c.-257+2548_-257+2549delinsGT (TMEM229B)	ENSP00000451774.1:n.-257+2548_-257+2549delinsGT
ENST00000557779.1:c.-192+2189_-192+2190delinsGT (TMEM229B)	ENSP00000452025.1:n.-192+2189_-192+2190delinsGT
NM_182526.2:c.-192+2189_-192+2190delinsGT (TMEM229B)	NP_872332.1:n.-192+2189_-192+2190delinsGT
XM_005267374.3:c.-257+2548_-257+2549delinsGT (TMEM229B)	XP_005267431.1:n.-257+2548_-257+2549delinsGT
XM_005267375.2:c.-192+2548_-192+2549delinsGT (TMEM229B)	XP_005267432.1:n.-192+2548_-192+2549delinsGT
XM_006720062.2:c.-192+20739_-192+20740delinsGT (TMEM229B)	XP_006720125.1:n.-192+20739_-192+20740delinsGT
NM_001348544.1:c.-257+2189_-257+2190delinsGT (TMEM229B)	NP_001335473.1:n.-257+2189_-257+2190delinsGT
NM_001348546.1:c.-192+20865_-192+20866delinsGT (TMEM229B)	NP_001335475.1:n.-192+20865_-192+20866delinsGT
NM_001348547.1:c.-192+20739_-192+20740delinsGT (TMEM229B)	NP_001335476.1:n.-192+20739_-192+20740delinsGT
NM_001348548.1:c.-192+2548_-192+2549delinsGT (TMEM229B)	NP_001335477.1:n.-192+2548_-192+2549delinsGT
NM_001348549.1:c.-257+2548_-257+2549delinsGT (TMEM229B)	NP_001335478.1:n.-257+2548_-257+2549delinsGT
XM_017020925.2:c.1313-222299_1313-222298delinsAC (GPHN)	XP_016876414.1:n.1313-222299_1313-222298delinsAC
NM_001348544.2:c.-257+2189_-257+2190delinsGT (TMEM229B)	NP_001335473.1:n.-257+2189_-257+2190delinsGT
NM_001348547.2:c.-192+20739_-192+20740delinsGT (TMEM229B)	NP_001335476.1:n.-192+20739_-192+20740delinsGT
NM_001348548.2:c.-192+2548_-192+2549delinsGT (TMEM229B)	NP_001335477.1:n.-192+2548_-192+2549delinsGT
NM_001348549.2:c.-257+2548_-257+2549delinsGT (TMEM229B)	NP_001335478.1:n.-257+2548_-257+2549delinsGT
NM_001348546.2:c.-192+20865_-192+20866delinsGT (TMEM229B)	NP_001335475.1:n.-192+20865_-192+20866delinsGT
NM_182526.3:c.-192+2189_-192+2190delinsGT (TMEM229B)	NP_872332.1:n.-192+2189_-192+2190delinsGT