Canonical Allele Identifier: CA2676265317

Gene: IL12B

Linked Data

• gnomAD v4: 5-159323350-A-ACCAAATTCCATCTTCCTTTTTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323350_159323351insCCAAATTCCATCTTCCTTTTTGT , CM000667.2:g.159323350_159323351insCCAAATTCCATCTTCCTTTTTGT	GRCh38
NC_000005.9:g.158750358_158750359insCCAAATTCCATCTTCCTTTTTGT , CM000667.1:g.158750358_158750359insCCAAATTCCATCTTCCTTTTTGT	GRCh37
NC_000005.8:g.158682936_158682937insCCAAATTCCATCTTCCTTTTTGT	NCBI36
NG_009618.1:g.12123_12124insACAAAAAGGAAGATGGAATTTGG , LRG_71:g.12123_12124insACAAAAAGGAAGATGGAATTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2831_-148-2830insACAAAAAGGAAGATGGAATTTGG	ENSP00000512849.1:n.-148-2831_-148-2830insACAAAAAGGAAGATGGAAT...
ENST00000696751.1:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG	ENSP00000512850.1:n.89-22_89-21insACAAAAAGGAAGATGGAATTTGG
ENST00000231228.3:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG MANE Select	ENSP00000231228.2:n.89-22_89-21insACAAAAAGGAAGATGGAATTTGG
ENST00000231228.2:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG	ENSP00000231228.2:n.89-22_89-21insACAAAAAGGAAGATGGAATTTGG
NM_002187.2:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG , LRG_71t1:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG	NP_002178.2:n.89-22_89-21insACAAAAAGGAAGATGGAATTTGG
XR_001742945.1:n.148-2184_148-2183insCCAAATTCCATCTTCCTTTTTGT
NM_002187.3:c.89-22_89-21insACAAAAAGGAAGATGGAATTTGG MANE Select	NP_002178.2:n.89-22_89-21insACAAAAAGGAAGATGGAATTTGG