Canonical Allele Identifier: CA313719351

Gene: ABHD12

Linked Data

• dbSNP Id: rs980374873
• gnomAD v2: 20-25288538-ATTAG-A
• gnomAD v3: 20-25307902-ATTAG-A
• gnomAD v4: 20-25307902-ATTAG-A
• MyVariant Identifiers: chr20:g.25288539_25288542del (hg19) ; chr20:g.25307903_25307906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25307906_25307909del , CM000682.2:g.25307906_25307909del	GRCh38
NC_000020.10:g.25288542_25288545del , CM000682.1:g.25288542_25288545del	GRCh37
NC_000020.9:g.25236542_25236545del	NCBI36
NG_028119.1:g.88077_88080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.867+60_867+63del MANE Select	ENSP00000341408.5:n.867+60_867+63del
ENST00000376542.8:c.867+60_867+63del	ENSP00000365725.3:n.867+60_867+63del
ENST00000465694.2:c.321+60_321+63del	ENSP00000459278.2:n.321+60_321+63del
ENST00000671784.1:c.321+60_321+63del	ENSP00000500451.1:n.321+60_321+63del
ENST00000671858.1:c.321+60_321+63del	ENSP00000500550.1:n.321+60_321+63del
ENST00000672001.1:n.378+60_378+63del
ENST00000672114.1:c.321+60_321+63del	ENSP00000499945.1:n.321+60_321+63del
ENST00000672258.1:c.321+60_321+63del	ENSP00000499868.1:n.321+60_321+63del
ENST00000672331.1:c.321+60_321+63del	ENSP00000500286.1:n.321+60_321+63del
ENST00000672358.1:c.321+60_321+63del	ENSP00000500062.1:n.321+60_321+63del
ENST00000672406.1:c.*206+60_*206+63del	ENSP00000500208.1:n.*206+60_*206+63del
ENST00000672566.1:c.396+60_396+63del	ENSP00000500106.1:n.396+60_396+63del
ENST00000672596.1:c.321+60_321+63del	ENSP00000500290.1:n.321+60_321+63del
ENST00000672871.1:c.321+60_321+63del	ENSP00000499949.1:n.321+60_321+63del
ENST00000673094.1:c.321+60_321+63del	ENSP00000500257.1:n.321+60_321+63del
ENST00000673121.1:c.423+60_423+63del	ENSP00000499839.1:n.423+60_423+63del
ENST00000673227.1:c.321+60_321+63del	ENSP00000500514.1:n.321+60_321+63del
ENST00000673524.1:c.429+60_429+63del
ENST00000339157.9:c.867+60_867+63del	ENSP00000341408.5:n.867+60_867+63del
ENST00000376542.7:c.867+60_867+63del	ENSP00000365725.3:n.867+60_867+63del
ENST00000481556.1:n.521+60_521+63del
ENST00000491682.5:c.396+60_396+63del	ENSP00000459495.1:n.396+60_396+63del
ENST00000576316.5:c.171+60_171+63del	ENSP00000459121.1:n.171+60_171+63del
NM_001042472.2:c.867+60_867+63del	NP_001035937.1:n.867+60_867+63del
NM_015600.4:c.867+60_867+63del	NP_056415.1:n.867+60_867+63del
XM_005260698.1:c.867+60_867+63del	XP_005260755.1:n.867+60_867+63del
XM_005260699.3:c.867+60_867+63del	XP_005260756.1:n.867+60_867+63del
XM_005260700.1:c.396+60_396+63del	XP_005260757.1:n.396+60_396+63del
XM_011529214.1:c.867+60_867+63del	XP_011527516.1:n.867+60_867+63del
XM_011529215.1:c.396+60_396+63del	XP_011527517.1:n.396+60_396+63del
XM_011529216.1:c.396+60_396+63del	XP_011527518.1:n.396+60_396+63del
XM_011529217.1:c.210+60_210+63del	XP_011527519.1:n.210+60_210+63del
XM_011529218.1:c.210+60_210+63del	XP_011527520.1:n.210+60_210+63del
XM_011529214.2:c.867+60_867+63del	XP_011527516.1:n.867+60_867+63del
XM_017027796.1:c.396+60_396+63del	XP_016883285.1:n.396+60_396+63del
XR_002958465.1:n.877+60_877+63del
XR_002958466.1:n.997+60_997+63del
XR_002958467.1:n.556+60_556+63del
NM_001042472.3:c.867+60_867+63del MANE Select	NP_001035937.1:n.867+60_867+63del
NM_015600.5:c.867+60_867+63del	NP_056415.1:n.867+60_867+63del