Canonical Allele Identifier: CA2739290071

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668489_41668499del , CM000670.2:g.41668489_41668499del	GRCh38
NC_000008.10:g.41526007_41526017del , CM000670.1:g.41526007_41526017del	GRCh37
NC_000008.9:g.41645164_41645174del	NCBI36
NG_012820.1:g.233265_233275del
NG_012820.2:g.233265_233275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5286_5296del	ENSP00000265709.8:p.Trp1762CysfsTer16
ENST00000705521.1:c.5382_5392del	ENSP00000516136.1:p.Trp1794CysfsTer16
ENST00000705522.1:c.5199_5209del	ENSP00000516137.1:p.Trp1733CysfsTer16
ENST00000265709.13:c.5286_5296del	ENSP00000265709.8:p.Trp1762CysfsTer16
ENST00000289734.13:c.5163_5173del MANE Select	ENSP00000289734.8:p.Trp1721CysfsTer16
ENST00000645531.1:c.1177_1187del
ENST00000265709.12:c.5286_5296del	ENSP00000265709.8:p.Trp1762CysfsTer16
ENST00000289734.11:c.5163_5173del	ENSP00000289734.7:p.Trp1721CysfsTer16
ENST00000347528.8:c.5163_5173del	ENSP00000339620.4:p.Trp1721CysfsTer16
ENST00000518061.1:c.735_745del
ENST00000520299.5:c.2641_2651del
ENST00000524227.5:n.2557_2567del
NM_000037.3:c.5163_5173del	NP_000028.3:p.Trp1721CysfsTer16
NM_001142446.1:c.5286_5296del	NP_001135918.1:p.Trp1762CysfsTer16
NM_020475.2:c.5163_5173del	NP_065208.2:p.Trp1721CysfsTer16
NM_020476.2:c.5163_5173del	NP_065209.2:p.Trp1721CysfsTer16
NM_020477.2:c.4677_4687del	NP_065210.2:p.Trp1559CysfsTer16
XM_005273476.3:c.5286_5296del	XP_005273533.1:p.Trp1762CysfsTer16
XM_011544490.1:c.5427_5437del	XP_011542792.1:p.Trp1809CysfsTer16
XM_011544491.1:c.5427_5437del	XP_011542793.1:p.Trp1809CysfsTer16
XM_011544492.1:c.5328_5338del	XP_011542794.1:p.Trp1776CysfsTer16
XM_011544493.1:c.5427_5437del	XP_011542795.1:p.Trp1809CysfsTer16
XM_011544494.1:c.5382_5392del	XP_011542796.1:p.Trp1794CysfsTer16
XM_011544495.1:c.5382_5392del	XP_011542797.1:p.Trp1794CysfsTer16
XM_011544496.1:c.5427_5437del	XP_011542798.1:p.Trp1809CysfsTer16
XM_011544497.1:c.5262_5272del	XP_011542799.1:p.Trp1754CysfsTer16
XM_011544498.1:c.5244_5254del	XP_011542800.1:p.Trp1748CysfsTer16
XM_011544499.1:c.5427_5437del	XP_011542801.1:p.Trp1809CysfsTer16
XM_011544500.1:c.5262_5272del	XP_011542802.1:p.Trp1754CysfsTer16
XM_011544501.1:c.5262_5272del	XP_011542803.1:p.Trp1754CysfsTer16
XM_011544502.1:c.5262_5272del	XP_011542804.1:p.Trp1754CysfsTer16
XM_011544503.1:c.4896_4906del	XP_011542805.1:p.Trp1632CysfsTer16
XM_011544504.1:c.4776_4786del	XP_011542806.1:p.Trp1592CysfsTer16
XM_011544505.1:c.4776_4786del	XP_011542807.1:p.Trp1592CysfsTer16
XM_011544506.1:c.4987_4997del	XP_011542808.1:p.Ala1663SerfsTer14
XR_949389.1:n.5018_5028del
XM_005273476.4:c.5286_5296del	XP_005273533.1:p.Trp1762CysfsTer16
XM_011544490.3:c.5427_5437del	XP_011542792.1:p.Trp1809CysfsTer16
XM_011544491.3:c.5427_5437del	XP_011542793.1:p.Trp1809CysfsTer16
XM_011544494.3:c.5382_5392del	XP_011542796.1:p.Trp1794CysfsTer16
XM_011544495.3:c.5382_5392del	XP_011542797.1:p.Trp1794CysfsTer16
XM_011544496.3:c.5427_5437del	XP_011542798.1:p.Trp1809CysfsTer16
XM_011544500.2:c.5262_5272del	XP_011542802.1:p.Trp1754CysfsTer16
XM_011544501.2:c.5262_5272del	XP_011542803.1:p.Trp1754CysfsTer16
XM_011544502.2:c.5262_5272del	XP_011542804.1:p.Trp1754CysfsTer16
XM_011544503.3:c.4896_4906del	XP_011542805.1:p.Trp1632CysfsTer16
XM_011544504.2:c.4776_4786del	XP_011542806.1:p.Trp1592CysfsTer16
XM_011544505.2:c.4776_4786del	XP_011542807.1:p.Trp1592CysfsTer16
XM_017013319.2:c.5403_5413del	XP_016868808.1:p.Trp1801CysfsTer16
XM_017013320.2:c.5427_5437del	XP_016868809.1:p.Trp1809CysfsTer16
XM_017013321.1:c.5340_5350del	XP_016868810.1:p.Trp1780CysfsTer16
XM_017013322.1:c.5331_5341del	XP_016868811.1:p.Trp1777CysfsTer16
XM_017013323.1:c.5328_5338del	XP_016868812.1:p.Trp1776CysfsTer16
XM_017013324.1:c.5286_5296del	XP_016868813.1:p.Trp1762CysfsTer16
XM_017013325.1:c.5244_5254del	XP_016868814.1:p.Trp1748CysfsTer16
XM_017013326.1:c.5199_5209del	XP_016868815.1:p.Trp1733CysfsTer16
XM_017013327.2:c.4941_4951del	XP_016868816.1:p.Trp1647CysfsTer16
XM_017013328.2:c.4896_4906del	XP_016868817.1:p.Trp1632CysfsTer16
XM_017013329.1:c.4800_4810del	XP_016868818.1:p.Trp1600CysfsTer16
XM_024447128.1:c.5232_5242del	XP_024302896.1:p.Trp1744CysfsTer16
NM_000037.4:c.5163_5173del MANE Select	NP_000028.3:p.Trp1721CysfsTer16
NM_001142446.2:c.5286_5296del	NP_001135918.1:p.Trp1762CysfsTer16
NM_020475.3:c.5163_5173del	NP_065208.2:p.Trp1721CysfsTer16
NM_020476.3:c.5163_5173del	NP_065209.2:p.Trp1721CysfsTer16
NM_020477.3:c.4677_4687del	NP_065210.2:p.Trp1559CysfsTer16