Canonical Allele Identifier: CA1948003178

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165021_2165022delinsGC , CM000673.2:g.2165021_2165022delinsGC	GRCh38
NC_000011.9:g.2186251_2186252delinsGC , CM000673.1:g.2186251_2186252delinsGC	GRCh37
NC_000011.8:g.2142827_2142828delinsGC	NCBI36
NG_007114.1:g.1173_1174delinsGC
NG_008128.1:g.11784_11785delinsGC
NG_050578.1:g.1188_1189delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+210_1334+211delinsGC MANE Select	ENSP00000325951.4:n.1334+210_1334+211delinsGC
ENST00000333684.9:c.1052+210_1052+211delinsGC	ENSP00000328814.6:n.1052+210_1052+211delinsGC
ENST00000352909.7:c.1334+210_1334+211delinsGC	ENSP00000325951.3:n.1334+210_1334+211delinsGC
ENST00000381175.5:c.1415+210_1415+211delinsGC	ENSP00000370567.1:n.1415+210_1415+211delinsGC
ENST00000381178.5:c.1427+210_1427+211delinsGC	ENSP00000370571.1:n.1427+210_1427+211delinsGC
NM_000360.3:c.1334+210_1334+211delinsGC	NP_000351.2:n.1334+210_1334+211delinsGC
NM_199292.2:c.1427+210_1427+211delinsGC	NP_954986.2:n.1427+210_1427+211delinsGC
NM_199293.2:c.1415+210_1415+211delinsGC	NP_954987.2:n.1415+210_1415+211delinsGC
XM_011520335.1:c.1346+210_1346+211delinsGC	XP_011518637.1:n.1346+210_1346+211delinsGC
XM_011520335.2:c.1346+210_1346+211delinsGC	XP_011518637.1:n.1346+210_1346+211delinsGC
NM_000360.4:c.1334+210_1334+211delinsGC MANE Select	NP_000351.2:n.1334+210_1334+211delinsGC
NM_199292.3:c.1427+210_1427+211delinsGC	NP_954986.2:n.1427+210_1427+211delinsGC
NM_199293.3:c.1415+210_1415+211delinsGC	NP_954987.2:n.1415+210_1415+211delinsGC