Canonical Allele Identifier: CA694286947

Gene: NALCN

Linked Data

• dbSNP Id: rs1237437379
• gnomAD v3: 13-101227251-ATCC-A
• gnomAD v4: 13-101227251-ATCC-A
• MyVariant Identifiers: chr13:g.101879603_101879605del (hg19) ; chr13:g.101227252_101227254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101227256_101227258del , CM000675.2:g.101227256_101227258del	GRCh38
NC_000013.10:g.101879607_101879609del , CM000675.1:g.101879607_101879609del	GRCh37
NC_000013.9:g.100677608_100677610del	NCBI36
NG_053176.1:g.194953_194955del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251127.11:c.1626+2139_1626+2141del MANE Select	ENSP00000251127.6:n.1626+2139_1626+2141de...
ENST00000648359.1:c.1626+2139_1626+2141del	ENSP00000497465.1:n.1626+2139_1626+2141de...
ENST00000674840.1:n.1724+2139_1724+2141del
ENST00000674904.1:n.1706+2139_1706+2141del
ENST00000675150.1:c.1626+2139_1626+2141del	ENSP00000502680.1:n.1626+2139_1626+2141de...
ENST00000675332.1:c.1626+2139_1626+2141del	ENSP00000501955.1:n.1626+2139_1626+2141de...
ENST00000675594.1:c.*1063+2139_*1063+2141del	ENSP00000502490.1:n.*1063+2139_*1063+2141...
ENST00000675802.1:c.1626+2139_1626+2141del	ENSP00000501818.1:n.1626+2139_1626+2141de...
ENST00000676315.1:c.1539+2139_1539+2141del	ENSP00000501603.1:n.1539+2139_1539+2141de...
ENST00000676439.1:n.1800+2139_1800+2141del
ENST00000251127.10:c.1626+2139_1626+2141del	ENSP00000251127.6:n.1626+2139_1626+2141de...
ENST00000470333.1:n.1722+2139_1722+2141del
ENST00000497170.5:n.1780+2139_1780+2141del
NM_052867.2:c.1626+2139_1626+2141del	NP_443099.1:n.1626+2139_1626+2141del
XM_011521067.1:c.1683+2139_1683+2141del	XP_011519369.1:n.1683+2139_1683+2141del
XM_011521068.1:c.1626+2139_1626+2141del	XP_011519370.1:n.1626+2139_1626+2141del
XM_011521069.1:c.1596+2139_1596+2141del	XP_011519371.1:n.1596+2139_1596+2141del
XM_011521070.1:c.1683+2139_1683+2141del	XP_011519372.1:n.1683+2139_1683+2141del
NM_001350748.1:c.1626+2139_1626+2141del	NP_001337677.1:n.1626+2139_1626+2141del
NM_001350749.1:c.1626+2139_1626+2141del	NP_001337678.1:n.1626+2139_1626+2141del
NM_001350750.1:c.1539+2139_1539+2141del	NP_001337679.1:n.1539+2139_1539+2141del
NM_001350751.1:c.1539+2139_1539+2141del	NP_001337680.1:n.1539+2139_1539+2141del
NM_052867.3:c.1626+2139_1626+2141del	NP_443099.1:n.1626+2139_1626+2141del
XM_011521067.2:c.1683+2139_1683+2141del	XP_011519369.1:n.1683+2139_1683+2141del
XM_011521069.2:c.1596+2139_1596+2141del	XP_011519371.1:n.1596+2139_1596+2141del
XM_017020536.2:c.1179+2139_1179+2141del	XP_016876025.1:n.1179+2139_1179+2141del
XM_017020537.1:c.861+2139_861+2141del	XP_016876026.1:n.861+2139_861+2141del
XM_024449336.1:c.1683+2139_1683+2141del	XP_024305104.1:n.1683+2139_1683+2141del
NM_052867.4:c.1626+2139_1626+2141del MANE Select	NP_443099.1:n.1626+2139_1626+2141del
NM_001350748.2:c.1626+2139_1626+2141del	NP_001337677.1:n.1626+2139_1626+2141del
NM_001350749.2:c.1626+2139_1626+2141del	NP_001337678.1:n.1626+2139_1626+2141del
NM_001350750.2:c.1539+2139_1539+2141del	NP_001337679.1:n.1539+2139_1539+2141del
NM_001350751.2:c.1539+2139_1539+2141del	NP_001337680.1:n.1539+2139_1539+2141del