Canonical Allele Identifier: CA1828993095

Gene: GLIS3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3932324_3932327delinsGCTT , CM000671.2:g.3932324_3932327delinsGCTT	GRCh38
NC_000009.11:g.3932324_3932327delinsGCTT , CM000671.1:g.3932324_3932327delinsGCTT	GRCh37
NC_000009.10:g.3922324_3922327delinsGCTT	NCBI36
NG_011782.1:g.372709_372712delinsAAGC
NG_011782.2:g.372709_372712delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463680.6:n.273+33_273+36delinsAAGC
ENST00000464391.2:n.541+33_541+36delinsAAGC
ENST00000491889.6:c.*1346+33_*1346+36delinsAAGC	ENSP00000419914.1:n.*1346+33_*1346+36delinsAAGC
ENST00000645252.2:n.425+33_425+36delinsAAGC
ENST00000682749.1:c.1518+33_1518+36delinsAAGC	ENSP00000507306.1:n.1518+33_1518+36delinsAAGC
ENST00000682846.1:c.132-102835_132-102832delinsAAGC	ENSP00000507527.1:n.132-102835_132-102832delinsAAGC
ENST00000682864.1:n.482+33_482+36delinsAAGC
ENST00000381971.8:c.1983+33_1983+36delinsAAGC MANE Select	ENSP00000371398.3:n.1983+33_1983+36delinsAAGC
ENST00000645252.1:n.425+33_425+36delinsAAGC
ENST00000324333.14:c.1518+33_1518+36delinsAAGC	ENSP00000325494.10:n.1518+33_1518+36delinsAAGC
ENST00000381971.7:c.1983+33_1983+36delinsAAGC	ENSP00000371398.3:n.1983+33_1983+36delinsAAGC
ENST00000461870.5:n.339+33_339+36delinsAAGC
ENST00000463680.5:n.273+33_273+36delinsAAGC
ENST00000467497.6:n.523+33_523+36delinsAAGC
NM_001042413.1:c.1983+33_1983+36delinsAAGC	NP_001035878.1:n.1983+33_1983+36delinsAAGC
NM_152629.3:c.1518+33_1518+36delinsAAGC	NP_689842.3:n.1518+33_1518+36delinsAAGC
XM_005251386.3:c.1518+33_1518+36delinsAAGC	XP_005251443.1:n.1518+33_1518+36delinsAAGC
XM_005251387.3:c.1317+33_1317+36delinsAAGC	XP_005251444.1:n.1317+33_1317+36delinsAAGC
XM_005251388.3:c.1317+33_1317+36delinsAAGC	XP_005251445.1:n.1317+33_1317+36delinsAAGC
XM_011517763.1:c.1983+33_1983+36delinsAAGC	XP_011516065.1:n.1983+33_1983+36delinsAAGC
XM_011517764.1:c.1983+33_1983+36delinsAAGC	XP_011516066.1:n.1983+33_1983+36delinsAAGC
XM_011517765.1:c.1983+33_1983+36delinsAAGC	XP_011516067.1:n.1983+33_1983+36delinsAAGC
XM_011517766.1:c.1518+33_1518+36delinsAAGC	XP_011516068.1:n.1518+33_1518+36delinsAAGC
XM_011517767.1:c.1317+33_1317+36delinsAAGC	XP_011516069.1:n.1317+33_1317+36delinsAAGC
XM_005251386.4:c.1518+33_1518+36delinsAAGC	XP_005251443.1:n.1518+33_1518+36delinsAAGC
XM_005251387.4:c.1317+33_1317+36delinsAAGC	XP_005251444.1:n.1317+33_1317+36delinsAAGC
XM_005251388.4:c.1317+33_1317+36delinsAAGC	XP_005251445.1:n.1317+33_1317+36delinsAAGC
XM_011517763.2:c.1983+33_1983+36delinsAAGC	XP_011516065.1:n.1983+33_1983+36delinsAAGC
XM_011517764.2:c.1983+33_1983+36delinsAAGC	XP_011516066.1:n.1983+33_1983+36delinsAAGC
XM_011517765.2:c.1983+33_1983+36delinsAAGC	XP_011516067.1:n.1983+33_1983+36delinsAAGC
XM_011517766.2:c.1518+33_1518+36delinsAAGC	XP_011516068.1:n.1518+33_1518+36delinsAAGC
XM_011517767.3:c.1317+33_1317+36delinsAAGC	XP_011516069.1:n.1317+33_1317+36delinsAAGC
XM_017014361.1:c.1518+33_1518+36delinsAAGC	XP_016869850.1:n.1518+33_1518+36delinsAAGC
NM_001042413.2:c.1983+33_1983+36delinsAAGC MANE Select	NP_001035878.1:n.1983+33_1983+36delinsAAGC
NM_152629.4:c.1518+33_1518+36delinsAAGC	NP_689842.3:n.1518+33_1518+36delinsAAGC