Canonical Allele Identifier: CA1123116828

Gene: DNAI1

Linked Data

• dbSNP Id: rs1825193230
• gnomAD v3: 9-34517503-TAA-T
• gnomAD v4: 9-34517503-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34517505_34517506del , CM000671.2:g.34517505_34517506del	GRCh38
NC_000009.11:g.34517503_34517504del , CM000671.1:g.34517503_34517504del	GRCh37
NC_000009.10:g.34507503_34507504del	NCBI36
NG_008127.1:g.63693_63694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000242317.9:c.2001+38_2001+39del MANE Select	ENSP00000242317.4:n.2001+38_2001+39del
ENST00000242317.8:c.2001+38_2001+39del	ENSP00000242317.4:n.2001+38_2001+39del
ENST00000442556.1:c.329+2766_329+2767del
ENST00000614641.4:c.2013+38_2013+39del	ENSP00000480538.1:n.2013+38_2013+39del
NM_001281428.1:c.2013+38_2013+39del	NP_001268357.1:n.2013+38_2013+39del
NM_012144.3:c.2001+38_2001+39del	NP_036276.1:n.2001+38_2001+39del
XM_006716758.2:c.1470+38_1470+39del	XP_006716821.1:n.1470+38_1470+39del
XM_011517848.1:c.1755+38_1755+39del	XP_011516150.1:n.1755+38_1755+39del
XM_006716758.3:c.1470+38_1470+39del	XP_006716821.1:n.1470+38_1470+39del
XM_011517848.2:c.1755+38_1755+39del	XP_011516150.1:n.1755+38_1755+39del
XM_017014625.2:c.1743+38_1743+39del	XP_016870114.1:n.1743+38_1743+39del
XR_002956774.1:n.2104+38_2104+39del
NM_012144.4:c.2001+38_2001+39del MANE Select	NP_036276.1:n.2001+38_2001+39del
NM_001281428.2:c.2013+38_2013+39del	NP_001268357.1:n.2013+38_2013+39del