Canonical Allele Identifier: CA597089669

Gene: TH

Linked Data

• dbSNP Id: rs1448011871
• gnomAD v2: 11-2186644-GAGGGA-G
• gnomAD v4: 11-2165414-GAGGGA-G
• MyVariant Identifiers: chr11:g.2186645_2186649del (hg19) ; chr11:g.2165415_2165419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165416_2165420del , CM000673.2:g.2165416_2165420del	GRCh38
NC_000011.9:g.2186646_2186650del , CM000673.1:g.2186646_2186650del	GRCh37
NC_000011.8:g.2143222_2143226del	NCBI36
NG_007114.1:g.776_780del
NG_008128.1:g.11387_11391del
NG_050578.1:g.791_795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1201-54_1201-50del MANE Select	ENSP00000325951.4:n.1201-54_1201-50del
ENST00000324155.8:c.*890-54_*890-50del	ENSP00000325831.3:n.*890-54_*890-50del
ENST00000333684.9:c.919-54_919-50del	ENSP00000328814.6:n.919-54_919-50del
ENST00000352909.7:c.1201-54_1201-50del	ENSP00000325951.3:n.1201-54_1201-50del
ENST00000381175.5:c.1282-54_1282-50del	ENSP00000370567.1:n.1282-54_1282-50del
ENST00000381178.5:c.1294-54_1294-50del	ENSP00000370571.1:n.1294-54_1294-50del
NM_000360.3:c.1201-54_1201-50del	NP_000351.2:n.1201-54_1201-50del
NM_199292.2:c.1294-54_1294-50del	NP_954986.2:n.1294-54_1294-50del
NM_199293.2:c.1282-54_1282-50del	NP_954987.2:n.1282-54_1282-50del
XM_011520335.1:c.1213-54_1213-50del	XP_011518637.1:n.1213-54_1213-50del
XM_011520335.2:c.1213-54_1213-50del	XP_011518637.1:n.1213-54_1213-50del
NM_000360.4:c.1201-54_1201-50del MANE Select	NP_000351.2:n.1201-54_1201-50del
NM_199292.3:c.1294-54_1294-50del	NP_954986.2:n.1294-54_1294-50del
NM_199293.3:c.1282-54_1282-50del	NP_954987.2:n.1282-54_1282-50del