Canonical Allele Identifier: CA640352386

Gene: ALG12

Linked Data

• dbSNP Id: rs1431155662
• gnomAD v2: 22-50307254-G-GCAAGA
• gnomAD v4: 22-49913606-G-GCAAGA
• MyVariant Identifiers: chr22:g.50307254_50307255insCAAGA (hg19) ; chr22:g.49913606_49913607insCAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913607_49913608insAAGAC , CM000684.2:g.49913607_49913608insAAGAC	GRCh38
NC_000022.10:g.50307255_50307256insAAGAC , CM000684.1:g.50307255_50307256insAAGAC	GRCh37
NC_000022.9:g.48693259_48693260insAAGAC	NCBI36
NG_008927.1:g.9852_9853insTCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.159_160insTCTTG MANE Select	ENSP00000333813.5:p.Gln54SerfsTer22
ENST00000330817.10:c.159_160insTCTTG	ENSP00000333813.5:p.Gln54SerfsTer22
NM_024105.3:c.159_160insTCTTG	NP_077010.1:p.Gln54SerfsTer22
XM_011530369.1:c.159_160insTCTTG	XP_011528671.1:p.Gln54SerfsTer22
XM_011530370.1:c.159_160insTCTTG	XP_011528672.1:p.Gln54SerfsTer22
XM_011530371.1:c.159_160insTCTTG	XP_011528673.1:p.Gln54SerfsTer22
XM_011530371.2:c.159_160insTCTTG	XP_011528673.1:p.Gln54SerfsTer22
XM_017028936.1:c.159_160insTCTTG	XP_016884425.1:p.Gln54SerfsTer22
XM_017028937.1:c.159_160insTCTTG	XP_016884426.1:p.Gln54SerfsTer22
NM_024105.4:c.159_160insTCTTG MANE Select	NP_077010.1:p.Gln54SerfsTer22