Canonical Allele Identifier: CA1845610392

Gene: DNAI1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34514439_34514442delinsCACA , CM000671.2:g.34514439_34514442delinsCACA	GRCh38
NC_000009.11:g.34514437_34514440delinsCACA , CM000671.1:g.34514437_34514440delinsCACA	GRCh37
NC_000009.10:g.34504437_34504440delinsCACA	NCBI36
NG_008127.1:g.60627_60630delinsCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242317.9:c.1615_1618delinsCACA MANE Select	ENSP00000242317.4:p.His539=
ENST00000242317.8:c.1615_1618delinsCACA	ENSP00000242317.4:p.His539=
ENST00000442556.1:c.126_129delinsCACA
ENST00000470169.5:c.507-201_507-198delinsCACA
ENST00000485580.1:n.94_97delinsCACA
ENST00000614641.4:c.1627_1630delinsCACA	ENSP00000480538.1:p.His543=
NM_001281428.1:c.1627_1630delinsCACA	NP_001268357.1:p.His543=
NM_012144.3:c.1615_1618delinsCACA	NP_036276.1:p.His539=
XM_006716758.2:c.1084_1087delinsCACA	XP_006716821.1:p.His362=
XM_011517846.1:c.1627_1630delinsCACA	XP_011516148.1:p.His543=
XM_011517847.1:c.1627_1630delinsCACA	XP_011516149.1:p.His543=
XM_011517848.1:c.1369_1372delinsCACA	XP_011516150.1:p.His457=
XM_011517849.1:c.1582-65_1582-62delinsCACA	XP_011516151.1:n.1582-65_1582-62delinsCACA
XR_929232.1:n.1836-65_1836-62delinsCACA
XR_929233.1:n.1836-65_1836-62delinsCACA
XR_929235.1:n.1578-65_1578-62delinsCACA
XM_006716758.3:c.1084_1087delinsCACA	XP_006716821.1:p.His362=
XM_011517846.2:c.1627_1630delinsCACA	XP_011516148.1:p.His543=
XM_011517847.3:c.1627_1630delinsCACA	XP_011516149.1:p.His543=
XM_011517848.2:c.1369_1372delinsCACA	XP_011516150.1:p.His457=
XM_011517849.2:c.1582-65_1582-62delinsCACA	XP_011516151.1:n.1582-65_1582-62delinsCACA
XM_017014625.2:c.1357_1360delinsCACA	XP_016870114.1:p.His453=
XR_002956774.1:n.1783-65_1783-62delinsCACA
XR_929232.2:n.1783-65_1783-62delinsCACA
XR_929233.2:n.1783-65_1783-62delinsCACA
NM_012144.4:c.1615_1618delinsCACA MANE Select	NP_036276.1:p.His539=
NM_001281428.2:c.1627_1630delinsCACA	NP_001268357.1:p.His543=