Canonical Allele Identifier: CA674318318

Gene: GTF2H1

Linked Data

• dbSNP Id: rs1332559921
• gnomAD v3: 11-18335561-TAGTG-T
• gnomAD v4: 11-18335561-TAGTG-T
• MyVariant Identifiers: chr11:g.18357109_18357112del (hg19) ; chr11:g.18335562_18335565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335565_18335568del , CM000673.2:g.18335565_18335568del	GRCh38
NC_000011.9:g.18357112_18357115del , CM000673.1:g.18357112_18357115del	GRCh37
NC_000011.8:g.18313688_18313691del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.155-189_155-186del MANE Select	ENSP00000265963.4:n.155-189_155-186del
ENST00000265963.8:c.155-189_155-186del	ENSP00000265963.4:n.155-189_155-186del
ENST00000418116.6:n.354-189_354-186del
ENST00000453096.6:c.155-189_155-186del	ENSP00000393638.2:n.155-189_155-186del
ENST00000525831.5:c.155-189_155-186del	ENSP00000431481.1:n.155-189_155-186del
ENST00000531757.5:n.425-189_425-186del
ENST00000534641.5:c.-2+2337_-2+2340del	ENSP00000435375.1:n.-2+2337_-2+2340del
ENST00000543932.5:n.568-189_568-186del
NM_001142307.1:c.155-189_155-186del	NP_001135779.1:n.155-189_155-186del
NM_005316.3:c.155-189_155-186del	NP_005307.1:n.155-189_155-186del
XM_006718208.2:c.155-189_155-186del	XP_006718271.1:n.155-189_155-186del
XM_006718208.3:c.155-189_155-186del	XP_006718271.1:n.155-189_155-186del
XM_024448457.1:c.155-189_155-186del	XP_024304225.1:n.155-189_155-186del
XM_024448458.1:c.155-189_155-186del	XP_024304226.1:n.155-189_155-186del
NM_005316.4:c.155-189_155-186del MANE Select	NP_005307.1:n.155-189_155-186del
NM_001142307.2:c.155-189_155-186del	NP_001135779.1:n.155-189_155-186del