Canonical Allele Identifier: CA964849726

Gene: IFT43

Linked Data

• dbSNP Id: rs2035506009
• gnomAD v3: 14-75985785-AGATGGAGGATTT-A
• gnomAD v4: 14-75985785-AGATGGAGGATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985787_75985798del , CM000676.2:g.75985787_75985798del	GRCh38
NC_000014.8:g.76452130_76452141del , CM000676.1:g.76452130_76452141del	GRCh37
NC_000014.7:g.75521883_75521894del	NCBI36
NG_011715.1:g.953_964del , LRG_399:g.953_964del
NG_031957.1:g.5035_5046del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.1_12del MANE Select	ENSP00000324177.6:p.Met1_Leu4del
ENST00000679083.1:c.-246_-235del	ENSP00000504736.1:n.-246_-235del
ENST00000238628.10:c.1_12del	ENSP00000238628.6:p.Met1_Leu4del
ENST00000314067.10:c.1_12del	ENSP00000324177.6:p.Met1_Leu4del
ENST00000542766.5:c.1_12del	ENSP00000440064.1:p.Met1_Leu4del
ENST00000554026.5:n.8_19del
ENST00000555305.5:n.8_19del
ENST00000555370.5:c.1_12del	ENSP00000452051.1:p.Met1_Leu4del
ENST00000555677.5:n.90-3098_90-3087del
ENST00000556742.1:c.1_12del	ENSP00000451096.1:p.Met1_Leu4del
NM_001102564.1:c.1_12del	NP_001096034.1:p.Met1_Leu4del
NM_001255995.1:c.1_12del	NP_001242924.1:p.Met1_Leu4del
NM_052873.2:c.1_12del	NP_443105.2:p.Met1_Leu4del
NR_045664.1:n.35_46del
NR_045665.1:n.35_46del
NM_001102564.2:c.1_12del	NP_001096034.1:p.Met1_Leu4del
NM_001255995.2:c.1_12del	NP_001242924.1:p.Met1_Leu4del
NM_052873.3:c.1_12del	NP_443105.2:p.Met1_Leu4del
NM_001102564.3:c.1_12del MANE Select	NP_001096034.1:p.Met1_Leu4del
NM_001255995.3:c.1_12del	NP_001242924.1:p.Met1_Leu4del
NR_045664.2:n.25_36del
NR_045665.2:n.25_36del