Canonical Allele Identifier: CA2559665553

Gene: ATP2C1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.130980595_130980596insCTTTCATTT , CM000665.2:g.130980595_130980596insCTTTCATTT	GRCh38
NC_000003.11:g.130699439_130699440insCTTTCATTT , CM000665.1:g.130699439_130699440insCTTTCATTT	GRCh37
NC_000003.10:g.132182129_132182130insCTTTCATTT	NCBI36
NG_007379.1:g.91006_91007insCTTTCATTT
NG_007379.2:g.135071_135072insCTTTCATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510168.6:c.1755_1756insCTTTCATTT MANE Select	ENSP00000427461.1:p.Gly585_Leu586insLeuSerPhe
ENST00000328560.12:c.1755_1756insCTTTCATTT	ENSP00000329664.8:p.Gly585_Leu586insLeuSerPhe
ENST00000359644.7:c.1755_1756insCTTTCATTT	ENSP00000352665.3:p.Gly585_Leu586insLeuSerPhe
ENST00000422190.6:c.1755_1756insCTTTCATTT	ENSP00000402677.2:p.Gly585_Leu586insLeuSerPhe
ENST00000428331.6:c.1755_1756insCTTTCATTT	ENSP00000395809.2:p.Gly585_Leu586insLeuSerPhe
ENST00000504381.5:c.1740_1741insCTTTCATTT	ENSP00000425320.2:p.Gly580_Leu581insLeuSerPhe
ENST00000504571.5:c.631+5107_631+5108insCTTTCATTT	ENSP00000422489.1:n.631+5107_631+5108insCTTTCATTT
ENST00000504612.5:c.1616_1617insCTTTCATTT
ENST00000504948.5:c.1707_1708insCTTTCATTT	ENSP00000423330.1:p.Gly569_Leu570insLeuSerPhe
ENST00000505330.5:c.1857_1858insCTTTCATTT	ENSP00000423774.2:p.Gly619_Leu620insLeuSerPhe
ENST00000507488.6:c.1857_1858insCTTTCATTT	ENSP00000421326.3:p.Gly619_Leu620insLeuSerPhe
ENST00000508532.5:c.1755_1756insCTTTCATTT	ENSP00000424783.1:p.Gly585_Leu586insLeuSerPhe
ENST00000508660.5:c.308_309insCTTTCATTT
ENST00000510168.5:c.1755_1756insCTTTCATTT	ENSP00000427461.1:p.Gly585_Leu586insLeuSerPhe
ENST00000510774.1:n.26_27insCTTTCATTT
ENST00000513801.5:c.1707_1708insCTTTCATTT	ENSP00000422872.1:p.Gly569_Leu570insLeuSerPhe
ENST00000514654.5:n.1925_1926insCTTTCATTT
ENST00000533801.6:c.1755_1756insCTTTCATTT	ENSP00000432956.3:p.Gly585_Leu586insLeuSerPhe
NM_001001485.2:c.1755_1756insCTTTCATTT	NP_001001485.1:p.Gly585_Leu586insLeuSerPhe
NM_001001486.1:c.1755_1756insCTTTCATTT	NP_001001486.1:p.Gly585_Leu586insLeuSerPhe
NM_001001487.1:c.1755_1756insCTTTCATTT	NP_001001487.1:p.Gly585_Leu586insLeuSerPhe
NM_001199179.1:c.1755_1756insCTTTCATTT	NP_001186108.1:p.Gly585_Leu586insLeuSerPhe
NM_001199180.1:c.1857_1858insCTTTCATTT	NP_001186109.1:p.Gly619_Leu620insLeuSerPhe
NM_001199181.1:c.1857_1858insCTTTCATTT	NP_001186110.1:p.Gly619_Leu620insLeuSerPhe
NM_001199182.1:c.1740_1741insCTTTCATTT	NP_001186111.1:p.Gly580_Leu581insLeuSerPhe
NM_001199183.1:c.1707_1708insCTTTCATTT	NP_001186112.1:p.Gly569_Leu570insLeuSerPhe
NM_001199184.1:c.1707_1708insCTTTCATTT	NP_001186113.1:p.Gly569_Leu570insLeuSerPhe
NM_001199185.1:c.1755_1756insCTTTCATTT	NP_001186114.1:p.Gly585_Leu586insLeuSerPhe
NM_014382.3:c.1755_1756insCTTTCATTT	NP_055197.2:p.Gly585_Leu586insLeuSerPhe
XM_005247354.1:c.1857_1858insCTTTCATTT	XP_005247411.1:p.Gly619_Leu620insLeuSerPhe
XM_005247355.1:c.1755_1756insCTTTCATTT	XP_005247412.1:p.Gly585_Leu586insLeuSerPhe
XM_005247356.1:c.1755_1756insCTTTCATTT	XP_005247413.1:p.Gly585_Leu586insLeuSerPhe
XM_005247357.1:c.1755_1756insCTTTCATTT	XP_005247414.1:p.Gly585_Leu586insLeuSerPhe
XM_005247358.1:c.1707_1708insCTTTCATTT	XP_005247415.1:p.Gly569_Leu570insLeuSerPhe
XM_006713585.1:c.1755_1756insCTTTCATTT	XP_006713648.1:p.Gly585_Leu586insLeuSerPhe
XM_011512685.1:c.1686_1687insCTTTCATTT	XP_011510987.1:p.Gly562_Leu563insLeuSerPhe
XM_011512686.1:c.921_922insCTTTCATTT	XP_011510988.1:p.Gly307_Leu308insLeuSerPhe
XM_011512687.1:c.1672+5107_1672+5108insCTTTCATTT	XP_011510989.1:n.1672+5107_1672+5108insCTTTCATTT
XM_005247354.2:c.1857_1858insCTTTCATTT	XP_005247411.1:p.Gly619_Leu620insLeuSerPhe
XM_005247355.2:c.1755_1756insCTTTCATTT	XP_005247412.1:p.Gly585_Leu586insLeuSerPhe
XM_005247356.3:c.1755_1756insCTTTCATTT	XP_005247413.1:p.Gly585_Leu586insLeuSerPhe
XM_005247358.3:c.1707_1708insCTTTCATTT	XP_005247415.1:p.Gly569_Leu570insLeuSerPhe
XM_011512686.2:c.921_922insCTTTCATTT	XP_011510988.1:p.Gly307_Leu308insLeuSerPhe
XM_017006164.2:c.1755_1756insCTTTCATTT	XP_016861653.1:p.Gly585_Leu586insLeuSerPhe
NM_001199179.2:c.1755_1756insCTTTCATTT	NP_001186108.1:p.Gly585_Leu586insLeuSerPhe
NM_001199180.2:c.1857_1858insCTTTCATTT	NP_001186109.1:p.Gly619_Leu620insLeuSerPhe
NM_001199181.2:c.1857_1858insCTTTCATTT	NP_001186110.1:p.Gly619_Leu620insLeuSerPhe
NM_001199182.2:c.1740_1741insCTTTCATTT	NP_001186111.1:p.Gly580_Leu581insLeuSerPhe
NM_001199183.2:c.1707_1708insCTTTCATTT	NP_001186112.1:p.Gly569_Leu570insLeuSerPhe
NM_001199184.2:c.1707_1708insCTTTCATTT	NP_001186113.1:p.Gly569_Leu570insLeuSerPhe
NM_001199185.2:c.1755_1756insCTTTCATTT	NP_001186114.1:p.Gly585_Leu586insLeuSerPhe
NM_014382.4:c.1755_1756insCTTTCATTT	NP_055197.2:p.Gly585_Leu586insLeuSerPhe
NM_001001485.3:c.1755_1756insCTTTCATTT	NP_001001485.1:p.Gly585_Leu586insLeuSerPhe
NM_001001486.2:c.1755_1756insCTTTCATTT	NP_001001486.1:p.Gly585_Leu586insLeuSerPhe
NM_001001487.2:c.1755_1756insCTTTCATTT	NP_001001487.1:p.Gly585_Leu586insLeuSerPhe
NM_001199179.3:c.1755_1756insCTTTCATTT	NP_001186108.1:p.Gly585_Leu586insLeuSerPhe
NM_001199181.3:c.1857_1858insCTTTCATTT	NP_001186110.1:p.Gly619_Leu620insLeuSerPhe
NM_001199184.3:c.1707_1708insCTTTCATTT	NP_001186113.1:p.Gly569_Leu570insLeuSerPhe
NM_001378511.1:c.1857_1858insCTTTCATTT	NP_001365440.1:p.Gly619_Leu620insLeuSerPhe
NM_001378512.1:c.1755_1756insCTTTCATTT	NP_001365441.1:p.Gly585_Leu586insLeuSerPhe
NM_001378513.1:c.1755_1756insCTTTCATTT	NP_001365442.1:p.Gly585_Leu586insLeuSerPhe
NM_001378514.1:c.1707_1708insCTTTCATTT	NP_001365443.1:p.Gly569_Leu570insLeuSerPhe
NM_001378687.1:c.1755_1756insCTTTCATTT MANE Select	NP_001365616.1:p.Gly585_Leu586insLeuSerPhe
NM_014382.5:c.1755_1756insCTTTCATTT	NP_055197.2:p.Gly585_Leu586insLeuSerPhe