Canonical Allele Identifier: CA2662800480

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127634-A-AGCTCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127634_206127635insGCTCTG , CM000664.2:g.206127634_206127635insGCTCTG	GRCh38
NC_000002.11:g.206992358_206992359insGCTCTG , CM000664.1:g.206992358_206992359insGCTCTG	GRCh37
NC_000002.10:g.206700603_206700604insGCTCTG	NCBI36
NG_009248.1:g.36829_36830insCAGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+162_1884+163insCAGAGC MANE Select	ENSP00000233190.5:n.1884+162_1884+163insCAGAGC
ENST00000233190.10:c.1884+162_1884+163insCAGAGC	ENSP00000233190.5:n.1884+162_1884+163insCAGAGC
ENST00000423725.5:c.1713+162_1713+163insCAGAGC	ENSP00000397760.1:n.1713+162_1713+163insCAGAGC
ENST00000432169.5:c.1551+162_1551+163insCAGAGC	ENSP00000409689.1:n.1551+162_1551+163insCAGAGC
ENST00000440274.5:c.1776+162_1776+163insCAGAGC	ENSP00000409766.1:n.1776+162_1776+163insCAGAGC
ENST00000449699.5:c.1884+162_1884+163insCAGAGC	ENSP00000399912.1:n.1884+162_1884+163insCAGAGC
ENST00000455934.6:c.1926+162_1926+163insCAGAGC	ENSP00000392709.2:n.1926+162_1926+163insCAGAGC
ENST00000457011.5:c.1536+162_1536+163insCAGAGC	ENSP00000400976.1:n.1536+162_1536+163insCAGAGC
ENST00000498520.1:n.518_519insCAGAGC
NM_001199981.1:c.1776+162_1776+163insCAGAGC	NP_001186910.1:n.1776+162_1776+163insCAGAGC
NM_001199982.1:c.1551+162_1551+163insCAGAGC	NP_001186911.1:n.1551+162_1551+163insCAGAGC
NM_001199983.1:c.1713+162_1713+163insCAGAGC	NP_001186912.1:n.1713+162_1713+163insCAGAGC
NM_001199984.1:c.1926+162_1926+163insCAGAGC	NP_001186913.1:n.1926+162_1926+163insCAGAGC
NM_005006.6:c.1884+162_1884+163insCAGAGC	NP_004997.4:n.1884+162_1884+163insCAGAGC
XM_017004188.2:c.1125+162_1125+163insCAGAGC	XP_016859677.1:n.1125+162_1125+163insCAGAGC
NM_001199981.2:c.1776+162_1776+163insCAGAGC	NP_001186910.1:n.1776+162_1776+163insCAGAGC
NM_001199982.2:c.1551+162_1551+163insCAGAGC	NP_001186911.1:n.1551+162_1551+163insCAGAGC
NM_001199983.2:c.1713+162_1713+163insCAGAGC	NP_001186912.1:n.1713+162_1713+163insCAGAGC
NM_005006.7:c.1884+162_1884+163insCAGAGC MANE Select	NP_004997.4:n.1884+162_1884+163insCAGAGC
NM_001199984.2:c.1926+162_1926+163insCAGAGC	NP_001186913.1:n.1926+162_1926+163insCAGAGC