Canonical Allele Identifier: CA1103139747

Gene: GTF2I

Linked Data

• dbSNP Id: rs1787542803
• gnomAD v3: 7-74684690-GTGGGTCGCCCT-G
• gnomAD v4: 7-74684690-GTGGGTCGCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74684695_74684705del , CM000669.2:g.74684695_74684705del	GRCh38
NC_000007.13:g.74099029_74099039del , CM000669.1:g.74099029_74099039del	GRCh37
NC_000007.12:g.73736965_73736975del	NCBI36
NG_008179.2:g.32006_32016del

Transcript Alleles

HGVS	Amino-acid change
ENST00000690345.1:c.479-4429_479-4419del	ENSP00000509776.1:n.479-4429_479-4419del
ENST00000573035.6:c.-5-4429_-5-4419del MANE Select	ENSP00000460070.1:n.-5-4429_-5-4419del
ENST00000650807.1:c.479-4429_479-4419del	ENSP00000499094.1:n.479-4429_479-4419del
ENST00000432143.2:c.-215_-205del	ENSP00000405022.1:n.-215_-205del
ENST00000443166.5:c.-5-4429_-5-4419del	ENSP00000404240.1:n.-5-4429_-5-4419del
ENST00000573035.5:c.-5-4429_-5-4419del	ENSP00000460070.1:n.-5-4429_-5-4419del
ENST00000613513.1:n.403-6278_403-6268del
ENST00000614986.4:c.-5-4429_-5-4419del	ENSP00000484526.1:n.-5-4429_-5-4419del
ENST00000620879.4:c.-5-4429_-5-4419del	ENSP00000477837.1:n.-5-4429_-5-4419del
ENST00000621734.4:c.-5-4429_-5-4419del	ENSP00000482476.1:n.-5-4429_-5-4419del
NM_001163636.2:c.-5-4429_-5-4419del	NP_001157108.1:n.-5-4429_-5-4419del
NM_001280800.1:c.-5-4429_-5-4419del	NP_001267729.1:n.-5-4429_-5-4419del
NM_001518.4:c.-5-4429_-5-4419del	NP_001509.3:n.-5-4429_-5-4419del
NM_032999.3:c.-5-4429_-5-4419del	NP_127492.1:n.-5-4429_-5-4419del
NM_033000.3:c.-5-4429_-5-4419del	NP_127493.1:n.-5-4429_-5-4419del
NM_033001.3:c.-5-4429_-5-4419del	NP_127494.1:n.-5-4429_-5-4419del
NM_001163636.3:c.-5-4429_-5-4419del	NP_001157108.1:n.-5-4429_-5-4419del
NM_001518.5:c.-5-4429_-5-4419del	NP_001509.3:n.-5-4429_-5-4419del
NM_032999.4:c.-5-4429_-5-4419del MANE Select	NP_127492.1:n.-5-4429_-5-4419del
NM_033000.4:c.-5-4429_-5-4419del	NP_127493.1:n.-5-4429_-5-4419del
NM_033001.4:c.-5-4429_-5-4419del	NP_127494.1:n.-5-4429_-5-4419del
NM_001280800.2:c.-5-4429_-5-4419del	NP_001267729.1:n.-5-4429_-5-4419del