Canonical Allele Identifier: CA916137497
Gene: AHDC1 HGNC NCBI

Linked Data

dbSNP Id: rs1571236931

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27550002_27550003insTCTC , CM000663.2:g.27550002_27550003insTCTC GRCh38
NC_000001.10:g.27876513_27876514insTCTC , CM000663.1:g.27876513_27876514insTCTC GRCh37
NC_000001.9:g.27749100_27749101insTCTC NCBI36
NG_034158.1:g.58492_58493insGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000247087.10:c.2113_2114insGAGA ENSP00000247087.4:p.Val705GlyfsTer16
ENST00000642245.1:c.2113_2114insGAGA ENSP00000495072.1:p.Val705GlyfsTer16
ENST00000642416.1:c.2113_2114insGAGA ENSP00000494394.1:p.Val705GlyfsTer16
ENST00000644989.1:c.2113_2114insGAGA ENSP00000495665.1:p.Val705GlyfsTer16
ENST00000673934.1:c.2113_2114insGAGA MANE Select ENSP00000501218.1:p.Val705GlyfsTer16
ENST00000247087.9:c.2113_2114insGAGA ENSP00000247087.4:p.Val705GlyfsTer16
ENST00000374011.6:c.2113_2114insGAGA ENSP00000363123.2:p.Val705GlyfsTer16
NM_001029882.3:c.2113_2114insGAGA NP_001025053.1:p.Val705GlyfsTer16
XM_005245848.2:c.2113_2114insGAGA XP_005245905.1:p.Val705GlyfsTer16
XM_005245849.2:c.2113_2114insGAGA XP_005245906.1:p.Val705GlyfsTer16
XM_005245850.2:c.2113_2114insGAGA XP_005245907.1:p.Val705GlyfsTer16
XM_005245851.2:c.2113_2114insGAGA XP_005245908.1:p.Val705GlyfsTer16
XM_005245852.2:c.2113_2114insGAGA XP_005245909.1:p.Val705GlyfsTer16
XM_011541255.1:c.2113_2114insGAGA XP_011539557.1:p.Val705GlyfsTer16
XM_011541256.1:c.2113_2114insGAGA XP_011539558.1:p.Val705GlyfsTer16
XM_011541257.1:c.2113_2114insGAGA XP_011539559.1:p.Val705GlyfsTer16
XR_946609.1:n.3070_3071insGAGA
XM_005245848.3:c.2113_2114insGAGA XP_005245905.1:p.Val705GlyfsTer16
XM_005245849.3:c.2113_2114insGAGA XP_005245906.1:p.Val705GlyfsTer16
XM_005245850.3:c.2113_2114insGAGA XP_005245907.1:p.Val705GlyfsTer16
XM_005245851.3:c.2113_2114insGAGA XP_005245908.1:p.Val705GlyfsTer16
XM_005245852.3:c.2113_2114insGAGA XP_005245909.1:p.Val705GlyfsTer16
XM_011541256.2:c.2113_2114insGAGA XP_011539558.1:p.Val705GlyfsTer16
XM_011541257.2:c.2113_2114insGAGA XP_011539559.1:p.Val705GlyfsTer16
XM_024446461.1:c.2113_2114insGAGA XP_024302229.1:p.Val705GlyfsTer16
XR_946609.2:n.3180_3181insGAGA
NM_001371928.1:c.2113_2114insGAGA MANE Select NP_001358857.1:p.Val705GlyfsTer16