Canonical Allele Identifier: CA2201613572
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361608_1361609delinsCA , CM000678.2:g.1361608_1361609delinsCA GRCh38
NC_000016.9:g.1411609_1411610delinsCA , CM000678.1:g.1411609_1411610delinsCA GRCh37
NC_000016.8:g.1351610_1351611delinsCA NCBI36
NG_016985.1:g.14710_14711delinsCA
NG_033129.1:g.58096_58097delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.278-135_278-134delinsCA
ENST00000529110.2:c.263-135_263-134delinsCA ENSP00000435349.2:n.263-135_263-134delinsCA
ENST00000529957.6:n.237-135_237-134delinsCA
ENST00000683366.1:c.179-264_179-263delinsCA ENSP00000507283.1:n.179-264_179-263delinsCA
ENST00000683887.1:c.179-87_179-86delinsCA ENSP00000506886.1:n.179-87_179-86delinsCA
ENST00000684126.1:n.237-135_237-134delinsCA
ENST00000684688.1:n.669_670delinsCA
ENST00000204679.9:c.179-135_179-134delinsCA MANE Select ENSP00000204679.4:n.179-135_179-134delinsCA
ENST00000204679.8:c.179-135_179-134delinsCA ENSP00000204679.4:n.179-135_179-134delinsCA
ENST00000526820.5:c.*81-135_*81-134delinsCA ENSP00000434413.1:n.*81-135_*81-134delinsCA
ENST00000527076.1:n.986_987delinsCA
ENST00000527168.5:n.270-264_270-263delinsCA
ENST00000529110.1:c.246-135_246-134delinsCA
ENST00000529957.5:n.278-135_278-134delinsCA
NM_032520.4:c.179-135_179-134delinsCA NP_115909.1:n.179-135_179-134delinsCA
XM_017023782.1:c.179-87_179-86delinsCA XP_016879271.1:n.179-87_179-86delinsCA
XM_017023783.1:c.-182-135_-182-134delinsCA XP_016879272.1:n.-182-135_-182-134delinsCA
NM_032520.5:c.179-135_179-134delinsCA MANE Select NP_115909.1:n.179-135_179-134delinsCA