Canonical Allele Identifier: CA707982461

Gene: TMEM229B GPHN

Linked Data

• dbSNP Id: rs1159276247
• gnomAD v3: 14-67509078-CCAAA-C
• gnomAD v4: 14-67509078-CCAAA-C
• MyVariant Identifiers: chr14:g.67975796_67975799del (hg19) ; chr14:g.67509079_67509082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67509081_67509084del , CM000676.2:g.67509081_67509084del	GRCh38
NC_000014.8:g.67975798_67975801del , CM000676.1:g.67975798_67975801del	GRCh37
NC_000014.7:g.67045551_67045554del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357461.7:c.-192+6004_-192+6007del (TMEM229B)	ENSP00000350050.2:n.-192+6004_-192+6007de...
ENST00000554278.6:c.-191-21910_-191-21907del (TMEM229B)	ENSP00000452402.2:n.-191-21910_-191-21907...
ENST00000555994.6:c.-256-5531_-256-5528del (TMEM229B)	ENSP00000452144.2:n.-256-5531_-256-5528de...
ENST00000557006.6:c.-256-5531_-256-5528del (TMEM229B)	ENSP00000451774.1:n.-256-5531_-256-5528de...
ENST00000357461.6:c.-192+6004_-192+6007del (TMEM229B)	ENSP00000350050.2:n.-192+6004_-192+6007de...
ENST00000554278.5:c.-191-21910_-191-21907del (TMEM229B)	ENSP00000452402.1:n.-191-21910_-191-21907...
ENST00000555638.5:c.-192+6363_-192+6366del (TMEM229B)	ENSP00000452201.1:n.-192+6363_-192+6366de...
ENST00000555994.5:c.-256-5531_-256-5528del (TMEM229B)	ENSP00000452144.1:n.-256-5531_-256-5528de...
ENST00000557006.5:c.-256-5531_-256-5528del (TMEM229B)	ENSP00000451774.1:n.-256-5531_-256-5528de...
ENST00000557779.1:c.-192+6004_-192+6007del (TMEM229B)	ENSP00000452025.1:n.-192+6004_-192+6007de...
NM_182526.2:c.-192+6004_-192+6007del (TMEM229B)	NP_872332.1:n.-192+6004_-192+6007del
XM_005267374.3:c.-256-5531_-256-5528del (TMEM229B)	XP_005267431.1:n.-256-5531_-256-5528del
XM_005267375.2:c.-192+6363_-192+6366del (TMEM229B)	XP_005267432.1:n.-192+6363_-192+6366del
XM_006720062.2:c.-191-21910_-191-21907del (TMEM229B)	XP_006720125.1:n.-191-21910_-191-21907del...
NM_001348544.1:c.-256-5531_-256-5528del (TMEM229B)	NP_001335473.1:n.-256-5531_-256-5528del
NM_001348546.1:c.-191-21910_-191-21907del (TMEM229B)	NP_001335475.1:n.-191-21910_-191-21907del...
NM_001348547.1:c.-191-21910_-191-21907del (TMEM229B)	NP_001335476.1:n.-191-21910_-191-21907del...
NM_001348548.1:c.-192+6363_-192+6366del (TMEM229B)	NP_001335477.1:n.-192+6363_-192+6366del
NM_001348549.1:c.-256-5531_-256-5528del (TMEM229B)	NP_001335478.1:n.-256-5531_-256-5528del
XM_017020925.2:c.1313-226114_1313-226111del (GPHN)	XP_016876414.1:n.1313-226114_1313-226111d...
NM_001348544.2:c.-256-5531_-256-5528del (TMEM229B)	NP_001335473.1:n.-256-5531_-256-5528del
NM_001348547.2:c.-191-21910_-191-21907del (TMEM229B)	NP_001335476.1:n.-191-21910_-191-21907del...
NM_001348548.2:c.-192+6363_-192+6366del (TMEM229B)	NP_001335477.1:n.-192+6363_-192+6366del
NM_001348549.2:c.-256-5531_-256-5528del (TMEM229B)	NP_001335478.1:n.-256-5531_-256-5528del
NM_001348546.2:c.-191-21910_-191-21907del (TMEM229B)	NP_001335475.1:n.-191-21910_-191-21907del...
NM_182526.3:c.-192+6004_-192+6007del (TMEM229B)	NP_872332.1:n.-192+6004_-192+6007del