Canonical Allele Identifier: CA2534029984

Gene: TH

Linked Data

• gnomAD v4: 11-2171657-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171658_2171659del , CM000673.2:g.2171658_2171659del	GRCh38
NC_000011.9:g.2192888_2192889del , CM000673.1:g.2192888_2192889del	GRCh37
NC_000011.8:g.2149464_2149465del	NCBI36
NG_008128.1:g.5147_5148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+38_90+39del MANE Select	ENSP00000325951.4:n.90+38_90+39del
ENST00000324155.8:c.90+38_90+39del	ENSP00000325831.3:n.90+38_90+39del
ENST00000333684.9:c.90+38_90+39del	ENSP00000328814.6:n.90+38_90+39del
ENST00000352909.7:c.90+38_90+39del	ENSP00000325951.3:n.90+38_90+39del
ENST00000381168.7:c.102+26_102+27del	ENSP00000370560.3:n.102+26_102+27del
ENST00000381175.5:c.90+38_90+39del	ENSP00000370567.1:n.90+38_90+39del
ENST00000381178.5:c.102+26_102+27del	ENSP00000370571.1:n.102+26_102+27del
NM_000360.3:c.90+38_90+39del	NP_000351.2:n.90+38_90+39del
NM_199292.2:c.102+26_102+27del	NP_954986.2:n.102+26_102+27del
NM_199293.2:c.90+38_90+39del	NP_954987.2:n.90+38_90+39del
XM_011520335.1:c.102+26_102+27del	XP_011518637.1:n.102+26_102+27del
XM_011520335.2:c.102+26_102+27del	XP_011518637.1:n.102+26_102+27del
NM_000360.4:c.90+38_90+39del MANE Select	NP_000351.2:n.90+38_90+39del
NM_199292.3:c.102+26_102+27del	NP_954986.2:n.102+26_102+27del
NM_199293.3:c.90+38_90+39del	NP_954987.2:n.90+38_90+39del