Canonical Allele Identifier: CA2320976351

Gene: PNPLA6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7554933_7554938delinsAGCAGC , CM000681.2:g.7554933_7554938delinsAGCAGC	GRCh38
NC_000019.9:g.7619819_7619824delinsAGCAGC , CM000681.1:g.7619819_7619824delinsAGCAGC	GRCh37
NC_000019.8:g.7525819_7525824delinsAGCAGC	NCBI36
NG_013374.1:g.25782_25787delinsAGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.2675_2680delinsAGCAGC MANE Select	ENSP00000473211.1:p.Lys892=
ENST00000221249.10:c.2561_2566delinsAGCAGC	ENSP00000221249.5:p.Lys854=
ENST00000414982.7:c.2705_2710delinsAGCAGC	ENSP00000407509.2:p.Lys902=
ENST00000450331.7:c.2561_2566delinsAGCAGC	ENSP00000394348.2:p.Lys854=
ENST00000545201.6:c.2480_2485delinsAGCAGC	ENSP00000443323.1:p.Lys827=
ENST00000600737.5:c.2675_2680delinsAGCAGC	ENSP00000473211.1:p.Lys892=
NM_001166111.1:c.2705_2710delinsAGCAGC	NP_001159583.1:p.Lys902=
NM_001166112.1:c.2480_2485delinsAGCAGC	NP_001159584.1:p.Lys827=
NM_001166113.1:c.2561_2566delinsAGCAGC	NP_001159585.1:p.Lys854=
NM_001166114.1:c.2675_2680delinsAGCAGC	NP_001159586.1:p.Lys892=
NM_006702.4:c.2561_2566delinsAGCAGC	NP_006693.3:p.Lys854=
NM_001166111.2:c.2705_2710delinsAGCAGC	NP_001159583.1:p.Lys902=
NM_001166114.2:c.2675_2680delinsAGCAGC MANE Select	NP_001159586.1:p.Lys892=
NM_006702.5:c.2561_2566delinsAGCAGC	NP_006693.3:p.Lys854=
NM_001166112.2:c.2480_2485delinsAGCAGC	NP_001159584.1:p.Lys827=