Canonical Allele Identifier: CA2662800429

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127622-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127622_206127623insCA , CM000664.2:g.206127622_206127623insCA	GRCh38
NC_000002.11:g.206992346_206992347insCA , CM000664.1:g.206992346_206992347insCA	GRCh37
NC_000002.10:g.206700591_206700592insCA	NCBI36
NG_009248.1:g.36841_36842insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+174_1884+175insTG MANE Select	ENSP00000233190.5:n.1884+174_1884+175insTG
ENST00000233190.10:c.1884+174_1884+175insTG	ENSP00000233190.5:n.1884+174_1884+175insTG
ENST00000423725.5:c.1713+174_1713+175insTG	ENSP00000397760.1:n.1713+174_1713+175insTG
ENST00000432169.5:c.1551+174_1551+175insTG	ENSP00000409689.1:n.1551+174_1551+175insTG
ENST00000440274.5:c.1776+174_1776+175insTG	ENSP00000409766.1:n.1776+174_1776+175insTG
ENST00000449699.5:c.1884+174_1884+175insTG	ENSP00000399912.1:n.1884+174_1884+175insTG
ENST00000455934.6:c.1926+174_1926+175insTG	ENSP00000392709.2:n.1926+174_1926+175insTG
ENST00000457011.5:c.1536+174_1536+175insTG	ENSP00000400976.1:n.1536+174_1536+175insTG
ENST00000498520.1:n.530_531insTG
NM_001199981.1:c.1776+174_1776+175insTG	NP_001186910.1:n.1776+174_1776+175insTG
NM_001199982.1:c.1551+174_1551+175insTG	NP_001186911.1:n.1551+174_1551+175insTG
NM_001199983.1:c.1713+174_1713+175insTG	NP_001186912.1:n.1713+174_1713+175insTG
NM_001199984.1:c.1926+174_1926+175insTG	NP_001186913.1:n.1926+174_1926+175insTG
NM_005006.6:c.1884+174_1884+175insTG	NP_004997.4:n.1884+174_1884+175insTG
XM_017004188.2:c.1125+174_1125+175insTG	XP_016859677.1:n.1125+174_1125+175insTG
NM_001199981.2:c.1776+174_1776+175insTG	NP_001186910.1:n.1776+174_1776+175insTG
NM_001199982.2:c.1551+174_1551+175insTG	NP_001186911.1:n.1551+174_1551+175insTG
NM_001199983.2:c.1713+174_1713+175insTG	NP_001186912.1:n.1713+174_1713+175insTG
NM_005006.7:c.1884+174_1884+175insTG MANE Select	NP_004997.4:n.1884+174_1884+175insTG
NM_001199984.2:c.1926+174_1926+175insTG	NP_001186913.1:n.1926+174_1926+175insTG