Canonical Allele Identifier: CA2499306972

Gene: PANK2

Linked Data

• gnomAD v4: 20-3916936-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3916941_3916943del , CM000682.2:g.3916941_3916943del	GRCh38
NC_000020.10:g.3897588_3897590del , CM000682.1:g.3897588_3897590del	GRCh37
NC_000020.9:g.3845588_3845590del	NCBI36
NG_008131.3:g.33103_33105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1097_1099del MANE Select	ENSP00000477429.2:p.Met366del
ENST00000316562.9:c.1427_1429del	ENSP00000313377.4:p.Met476del
ENST00000336066.8:c.*438_*440del	ENSP00000477229.2:n.*438_*440del
ENST00000610179.6:c.1097_1099del	ENSP00000477429.2:p.Met366del
ENST00000643504.2:c.*727_*729del	ENSP00000495157.2:n.*727_*729del
ENST00000646394.1:c.924_926del
ENST00000316562.8:c.1427_1429del	ENSP00000313377.4:p.Met476del
ENST00000336066.7:c.*438_*440del	ENSP00000477229.1:n.*438_*440del
ENST00000464452.1:n.662_664del
ENST00000495692.5:c.119_121del	ENSP00000476745.1:p.Met40del
ENST00000497424.5:c.554_556del	ENSP00000417609.1:p.Met185del
ENST00000610179.5:c.1058_1060del	ENSP00000477429.1:p.Met353del
ENST00000621507.1:c.554_556del	ENSP00000481523.1:p.Met185del
NM_024960.4:c.554_556del	NP_079236.3:p.Met185del
NM_153638.2:c.1427_1429del	NP_705902.2:p.Met476del
NM_153640.2:c.554_556del	NP_705904.1:p.Met185del
XM_005260835.2:c.812_814del	XP_005260892.1:p.Met271del
XM_005260836.3:c.554_556del	XP_005260893.3:p.Met185del
XM_006723631.1:c.554_556del	XP_006723694.1:p.Met185del
XM_011529364.1:c.1250_1252del	XP_011527666.1:p.Met417del
NM_001324191.1:c.554_556del	NP_001311120.1:p.Met185del
NM_001324193.1:c.119_121del	NP_001311122.1:p.Met40del
NM_024960.5:c.554_556del	NP_079236.3:p.Met185del
NM_153638.3:c.1427_1429del	NP_705902.2:p.Met476del
NM_153640.3:c.554_556del	NP_705904.1:p.Met185del
NR_136715.1:n.1451_1453del
XM_005260835.3:c.812_814del	XP_005260892.1:p.Met271del
XM_005260836.4:c.554_556del	XP_005260893.3:p.Met185del
XM_011529364.3:c.1250_1252del	XP_011527666.1:p.Met417del
XM_017028077.2:c.119_121del	XP_016883566.1:p.Met40del
XM_017028078.2:c.119_121del	XP_016883567.1:p.Met40del
XM_017028079.2:c.119_121del	XP_016883568.1:p.Met40del
XM_024452002.1:c.119_121del	XP_024307770.1:p.Met40del
XR_002958533.1:n.2215_2217del
NM_001324191.2:c.554_556del	NP_001311120.1:p.Met185del
NM_001324193.2:c.119_121del	NP_001311122.1:p.Met40del
NM_024960.6:c.554_556del	NP_079236.3:p.Met185del
NR_136715.2:n.998_1000del
NM_001386393.1:c.1097_1099del MANE Select	NP_001373322.1:p.Met366del
NM_153638.4:c.1427_1429del	NP_705902.2:p.Met476del
NM_153640.4:c.554_556del	NP_705904.1:p.Met185del