Canonical Allele Identifier: CA2587958425

Gene: PNPLA6

Linked Data

• gnomAD v4: 19-7561150-GCTGGAGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7561151_7561158del , CM000681.2:g.7561151_7561158del	GRCh38
NC_000019.9:g.7626037_7626044del , CM000681.1:g.7626037_7626044del	GRCh37
NC_000019.8:g.7532037_7532044del	NCBI36
NG_013374.1:g.32000_32007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000600737.6:c.3913+41_3913+48del MANE Select	ENSP00000473211.1:n.3913+41_3913+48del
ENST00000221249.10:c.3799+41_3799+48del	ENSP00000221249.5:n.3799+41_3799+48del
ENST00000414982.7:c.3943+41_3943+48del	ENSP00000407509.2:n.3943+41_3943+48del
ENST00000450331.7:c.3799+41_3799+48del	ENSP00000394348.2:n.3799+41_3799+48del
ENST00000545201.6:c.3718+41_3718+48del	ENSP00000443323.1:n.3718+41_3718+48del
ENST00000597202.1:n.271+41_271+48del
ENST00000599947.1:c.282+41_282+48del
ENST00000600737.5:c.3913+41_3913+48del	ENSP00000473211.1:n.3913+41_3913+48del
NM_001166111.1:c.3943+41_3943+48del	NP_001159583.1:n.3943+41_3943+48del
NM_001166112.1:c.3718+41_3718+48del	NP_001159584.1:n.3718+41_3718+48del
NM_001166113.1:c.3799+41_3799+48del	NP_001159585.1:n.3799+41_3799+48del
NM_001166114.1:c.3913+41_3913+48del	NP_001159586.1:n.3913+41_3913+48del
NM_006702.4:c.3799+41_3799+48del	NP_006693.3:n.3799+41_3799+48del
NM_001166111.2:c.3943+41_3943+48del	NP_001159583.1:n.3943+41_3943+48del
NM_001166114.2:c.3913+41_3913+48del MANE Select	NP_001159586.1:n.3913+41_3913+48del
NM_006702.5:c.3799+41_3799+48del	NP_006693.3:n.3799+41_3799+48del
NM_001166112.2:c.3718+41_3718+48del	NP_001159584.1:n.3718+41_3718+48del