Canonical Allele Identifier: CA694284439

Gene: NALCN

Linked Data

• dbSNP Id: rs1422062268
• gnomAD v3: 13-101398672-GACA-G
• gnomAD v4: 13-101398672-GACA-G
• MyVariant Identifiers: chr13:g.102051024_102051026del (hg19) ; chr13:g.101398673_101398675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101398677_101398679del , CM000675.2:g.101398677_101398679del	GRCh38
NC_000013.10:g.102051028_102051030del , CM000675.1:g.102051028_102051030del	GRCh37
NC_000013.9:g.100849029_100849031del	NCBI36
NG_053176.1:g.23532_23534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.108+344_108+346del MANE Select	ENSP00000251127.6:n.108+344_108+346del
ENST00000376200.6:c.108+344_108+346del	ENSP00000365373.5:n.108+344_108+346del
ENST00000648359.1:c.108+344_108+346del	ENSP00000497465.1:n.108+344_108+346del
ENST00000674840.1:n.206+344_206+346del
ENST00000674904.1:n.272+344_272+346del
ENST00000675150.1:c.108+344_108+346del	ENSP00000502680.1:n.108+344_108+346del
ENST00000675332.1:c.108+344_108+346del	ENSP00000501955.1:n.108+344_108+346del
ENST00000675415.1:n.291+344_291+346del
ENST00000675594.1:c.108+344_108+346del	ENSP00000502490.1:n.108+344_108+346del
ENST00000675802.1:c.108+344_108+346del	ENSP00000501818.1:n.108+344_108+346del
ENST00000676315.1:c.108+344_108+346del	ENSP00000501603.1:n.108+344_108+346del
ENST00000676357.1:n.328+344_328+346del
ENST00000676439.1:n.282+344_282+346del
ENST00000251127.10:c.108+344_108+346del	ENSP00000251127.6:n.108+344_108+346del
ENST00000376200.5:c.108+344_108+346del	ENSP00000365373.5:n.108+344_108+346del
ENST00000470333.1:n.204+344_204+346del
ENST00000497170.5:n.297+344_297+346del
NM_052867.2:c.108+344_108+346del	NP_443099.1:n.108+344_108+346del
XM_011521067.1:c.165+344_165+346del	XP_011519369.1:n.165+344_165+346del
XM_011521068.1:c.108+344_108+346del	XP_011519370.1:n.108+344_108+346del
XM_011521069.1:c.165+344_165+346del	XP_011519371.1:n.165+344_165+346del
XM_011521070.1:c.165+344_165+346del	XP_011519372.1:n.165+344_165+346del
NM_001350748.1:c.108+344_108+346del	NP_001337677.1:n.108+344_108+346del
NM_001350749.1:c.108+344_108+346del	NP_001337678.1:n.108+344_108+346del
NM_001350750.1:c.108+344_108+346del	NP_001337679.1:n.108+344_108+346del
NM_001350751.1:c.108+344_108+346del	NP_001337680.1:n.108+344_108+346del
NM_052867.3:c.108+344_108+346del	NP_443099.1:n.108+344_108+346del
XM_011521067.2:c.165+344_165+346del	XP_011519369.1:n.165+344_165+346del
XM_011521069.2:c.165+344_165+346del	XP_011519371.1:n.165+344_165+346del
XM_024449336.1:c.165+344_165+346del	XP_024305104.1:n.165+344_165+346del
NM_052867.4:c.108+344_108+346del MANE Select	NP_443099.1:n.108+344_108+346del
NM_001350748.2:c.108+344_108+346del	NP_001337677.1:n.108+344_108+346del
NM_001350749.2:c.108+344_108+346del	NP_001337678.1:n.108+344_108+346del
NM_001350750.2:c.108+344_108+346del	NP_001337679.1:n.108+344_108+346del
NM_001350751.2:c.108+344_108+346del	NP_001337680.1:n.108+344_108+346del