Canonical Allele Identifier: CA2770804699

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173656_42173657del , CM000668.2:g.42173656_42173657del	GRCh38
NC_000006.11:g.42141394_42141395del , CM000668.1:g.42141394_42141395del	GRCh37
NC_000006.10:g.42249372_42249373del	NCBI36
NG_009938.1:g.23251_23252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703265.1:c.*278_*279del (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*278_*279del
ENST00000703266.1:c.*278_*279del (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*278_*279del
ENST00000703267.1:c.*541_*542del (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*541_*542del
ENST00000372958.2:c.43_44del (GUCA1A) MANE Select	ENSP00000362049.1:p.Ser15HisfsTer13
ENST00000394237.6:c.*541_*542del (CIMIP3)	ENSP00000377784.2:n.*541_*542del
ENST00000418175.6:c.*278_*279del (CIMIP3)	ENSP00000388438.2:n.*278_*279del
ENST00000654459.1:c.43_44del (GUCA1A)	ENSP00000499539.1:p.Ser15HisfsTer13
ENST00000659095.1:c.*278_*279del (CIMIP3)	ENSP00000499714.1:n.*278_*279del
ENST00000053469.8:c.43_44del (GUCA1A)	ENSP00000053469.4:p.Ser15HisfsTer13
ENST00000372958.1:c.43_44del (GUCA1A)	ENSP00000362049.1:p.Ser15HisfsTer13
ENST00000394237.5:c.43_44del (GUCA1A)	ENSP00000377784.1:p.Ser15HisfsTer13
ENST00000418175.5:c.43_44del (GUCA1A)	ENSP00000388438.1:p.Ser15HisfsTer13
ENST00000541991.5:c.31_32del (GUCA1A)	ENSP00000437476.2:p.Ser11HisfsTer13
NM_000409.3:c.43_44del (GUCA1A)	NP_000400.2:p.Ser15HisfsTer13
XM_011514536.1:c.43_44del (GUCA1A)	XP_011512838.1:p.Ser15HisfsTer13
XM_011514537.1:c.43_44del (GUCA1A)	XP_011512839.1:p.Ser15HisfsTer13
XM_011514538.1:c.43_44del (GUCA1A)	XP_011512840.1:p.Ser15HisfsTer13
XM_011514539.1:c.43_44del (GUCA1A)	XP_011512841.1:p.Ser15HisfsTer13
NM_000409.4:c.43_44del (GUCA1A)	NP_000400.2:p.Ser15HisfsTer13
NM_001319061.1:c.43_44del (GUCA1A)	NP_001305990.1:p.Ser15HisfsTer13
NM_001319062.1:c.43_44del (GUCA1A)	NP_001305991.1:p.Ser15HisfsTer13
XM_011514537.2:c.43_44del (GUCA1A)	XP_011512839.1:p.Ser15HisfsTer13
NM_000409.5:c.43_44del (GUCA1A)	NP_000400.2:p.Ser15HisfsTer13
NM_001319061.2:c.43_44del (GUCA1A)	NP_001305990.1:p.Ser15HisfsTer13
NM_001319062.2:c.43_44del (GUCA1A)	NP_001305991.1:p.Ser15HisfsTer13
NM_001384910.1:c.43_44del (GUCA1A) MANE Select	NP_001371839.1:p.Ser15HisfsTer13