Canonical Allele Identifier: CA912994971

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411876_1411882del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361875_1361881del , CM000678.2:g.1361875_1361881del	GRCh38
NC_000016.9:g.1411876_1411882del , CM000678.1:g.1411876_1411882del	GRCh37
NC_000016.8:g.1351877_1351883del	NCBI36
NG_016985.1:g.14977_14983del
NG_033129.1:g.57824_57830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.336_342del
ENST00000529110.2:c.321_327del	ENSP00000435349.2:p.Tyr107Ter
ENST00000529957.6:n.295_301del
ENST00000683366.1:c.182_188del	ENSP00000507283.1:p.Thr61ArgfsTer?
ENST00000683887.1:c.285_291del	ENSP00000506886.1:p.Tyr95Ter
ENST00000684100.1:n.231_237del
ENST00000684126.1:n.295_301del
ENST00000684688.1:n.862_868del
ENST00000204679.9:c.237_243del MANE Select	ENSP00000204679.4:p.Tyr79Ter
ENST00000204679.8:c.237_243del	ENSP00000204679.4:p.Tyr79Ter
ENST00000526820.5:c.*139_*145del	ENSP00000434413.1:n.*139_*145del
ENST00000527076.1:n.1253_1259del
ENST00000527168.5:n.273_279del
ENST00000529110.1:c.304_310del
ENST00000529957.5:n.336_342del
NM_032520.4:c.237_243del	NP_115909.1:p.Tyr79Ter
XM_017023782.1:c.285_291del	XP_016879271.1:p.Tyr95Ter
XM_017023783.1:c.-124_-118del	XP_016879272.1:n.-124_-118del
NM_032520.5:c.237_243del MANE Select	NP_115909.1:p.Tyr79Ter