Canonical Allele Identifier: CA2662800490

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127637-T-TCCTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127637_206127638insCCTGGG , CM000664.2:g.206127637_206127638insCCTGGG	GRCh38
NC_000002.11:g.206992361_206992362insCCTGGG , CM000664.1:g.206992361_206992362insCCTGGG	GRCh37
NC_000002.10:g.206700606_206700607insCCTGGG	NCBI36
NG_009248.1:g.36826_36827insCCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+159_1884+160insCCCAGG MANE Select	ENSP00000233190.5:n.1884+159_1884+160insCCCAGG
ENST00000233190.10:c.1884+159_1884+160insCCCAGG	ENSP00000233190.5:n.1884+159_1884+160insCCCAGG
ENST00000423725.5:c.1713+159_1713+160insCCCAGG	ENSP00000397760.1:n.1713+159_1713+160insCCCAGG
ENST00000432169.5:c.1551+159_1551+160insCCCAGG	ENSP00000409689.1:n.1551+159_1551+160insCCCAGG
ENST00000440274.5:c.1776+159_1776+160insCCCAGG	ENSP00000409766.1:n.1776+159_1776+160insCCCAGG
ENST00000449699.5:c.1884+159_1884+160insCCCAGG	ENSP00000399912.1:n.1884+159_1884+160insCCCAGG
ENST00000455934.6:c.1926+159_1926+160insCCCAGG	ENSP00000392709.2:n.1926+159_1926+160insCCCAGG
ENST00000457011.5:c.1536+159_1536+160insCCCAGG	ENSP00000400976.1:n.1536+159_1536+160insCCCAGG
ENST00000498520.1:n.515_516insCCCAGG
NM_001199981.1:c.1776+159_1776+160insCCCAGG	NP_001186910.1:n.1776+159_1776+160insCCCAGG
NM_001199982.1:c.1551+159_1551+160insCCCAGG	NP_001186911.1:n.1551+159_1551+160insCCCAGG
NM_001199983.1:c.1713+159_1713+160insCCCAGG	NP_001186912.1:n.1713+159_1713+160insCCCAGG
NM_001199984.1:c.1926+159_1926+160insCCCAGG	NP_001186913.1:n.1926+159_1926+160insCCCAGG
NM_005006.6:c.1884+159_1884+160insCCCAGG	NP_004997.4:n.1884+159_1884+160insCCCAGG
XM_017004188.2:c.1125+159_1125+160insCCCAGG	XP_016859677.1:n.1125+159_1125+160insCCCAGG
NM_001199981.2:c.1776+159_1776+160insCCCAGG	NP_001186910.1:n.1776+159_1776+160insCCCAGG
NM_001199982.2:c.1551+159_1551+160insCCCAGG	NP_001186911.1:n.1551+159_1551+160insCCCAGG
NM_001199983.2:c.1713+159_1713+160insCCCAGG	NP_001186912.1:n.1713+159_1713+160insCCCAGG
NM_005006.7:c.1884+159_1884+160insCCCAGG MANE Select	NP_004997.4:n.1884+159_1884+160insCCCAGG
NM_001199984.2:c.1926+159_1926+160insCCCAGG	NP_001186913.1:n.1926+159_1926+160insCCCAGG