Canonical Allele Identifier: CA145493
Gene: GUCY1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.155710653dup , CM000666.2:g.155710653dup GRCh38
NC_000004.11:g.156631805dup , CM000666.1:g.156631805dup GRCh37
NC_000004.10:g.156851255dup NCBI36
NG_034128.1:g.48944dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000506455.6:c.488dup MANE Select ENSP00000424361.1:p.Leu163PhefsTer24
ENST00000296518.11:c.488dup ENSP00000296518.7:p.Leu163PhefsTer24
ENST00000393832.7:c.-287dup ENSP00000377418.3:n.-287dup
ENST00000443668.6:c.377-29dup ENSP00000409903.2:n.377-29dup
ENST00000455639.6:c.488dup ENSP00000412201.2:p.Leu163PhefsTer24
ENST00000506455.5:c.488dup ENSP00000424361.1:p.Leu163PhefsTer24
ENST00000509901.5:c.194-6506dup ENSP00000424863.1:n.194-6506dup
ENST00000511108.5:c.488dup ENSP00000421493.1:p.Leu163PhefsTer24
ENST00000511507.5:c.488dup ENSP00000426968.1:p.Leu163PhefsTer24
ENST00000512983.5:n.812dup
ENST00000513574.1:c.488dup ENSP00000426040.1:p.Leu163PhefsTer24
ENST00000515201.5:c.376+2359dup ENSP00000422141.1:n.376+2359dup
ENST00000621234.4:c.376+2359dup ENSP00000479710.1:n.376+2359dup
NM_000856.5:c.488dup NP_000847.2:p.Leu163PhefsTer24
NM_001130682.2:c.488dup NP_001124154.1:p.Leu163PhefsTer24
NM_001130683.3:c.488dup NP_001124155.1:p.Leu163PhefsTer24
NM_001130684.2:c.488dup NP_001124156.1:p.Leu163PhefsTer24
NM_001130685.2:c.-218dup NP_001124157.1:n.-218dup
NM_001130687.2:c.488dup NP_001124159.1:p.Leu163PhefsTer24
NM_001256449.1:c.488dup NP_001243378.1:p.Leu163PhefsTer24
XM_005262955.1:c.488dup XP_005263012.1:p.Leu163PhefsTer24
XM_005262956.1:c.-218dup XP_005263013.1:n.-218dup
XM_005262957.1:c.-218dup XP_005263014.1:n.-218dup
XM_006714196.1:c.488dup XP_006714259.1:p.Leu163PhefsTer24
XM_006714197.1:c.488dup XP_006714260.1:p.Leu163PhefsTer24
XM_006714198.1:c.-218dup XP_006714261.1:n.-218dup
XM_011531899.1:c.488dup XP_011530201.1:p.Leu163PhefsTer24
XM_011531900.1:c.-218dup XP_011530202.1:n.-218dup
XM_005262955.3:c.488dup XP_005263012.1:p.Leu163PhefsTer24
XM_005262956.3:c.-218dup XP_005263013.1:n.-218dup
XM_005262957.3:c.-218dup XP_005263014.1:n.-218dup
XM_006714196.2:c.488dup XP_006714259.1:p.Leu163PhefsTer24
XM_006714197.2:c.488dup XP_006714260.1:p.Leu163PhefsTer24
XM_011531900.2:c.-218dup XP_011530202.1:n.-218dup
NM_000856.6:c.488dup NP_000847.2:p.Leu163PhefsTer24
NM_001130682.3:c.488dup MANE Select NP_001124154.1:p.Leu163PhefsTer24
NM_001130683.4:c.488dup NP_001124155.1:p.Leu163PhefsTer24
NM_001130684.3:c.488dup NP_001124156.1:p.Leu163PhefsTer24
NM_001130685.3:c.-218dup NP_001124157.1:n.-218dup
NM_001256449.2:c.488dup NP_001243378.1:p.Leu163PhefsTer24
NM_001130687.3:c.488dup NP_001124159.1:p.Leu163PhefsTer24
NM_001379666.1:c.488dup NP_001366595.1:p.Leu163PhefsTer24
NM_001379667.1:c.488dup NP_001366596.1:p.Leu163PhefsTer24
NM_001379668.1:c.488dup NP_001366597.1:p.Leu163PhefsTer24
NM_001379669.1:c.488dup NP_001366598.1:p.Leu163PhefsTer24
NM_001379670.1:c.488dup NP_001366599.1:p.Leu163PhefsTer24
NM_001379671.1:c.488dup NP_001366600.1:p.Leu163PhefsTer24
NM_001379672.1:c.488dup NP_001366601.1:p.Leu163PhefsTer24
NM_001379673.1:c.488dup NP_001366602.1:p.Leu163PhefsTer24
NM_001379674.1:c.488dup NP_001366603.1:p.Leu163PhefsTer24
NM_001379675.1:c.488dup NP_001366604.1:p.Leu163PhefsTer24
NM_001379676.1:c.377-396dup NP_001366605.1:n.377-396dup