Canonical Allele Identifier: CA2814503210
Gene: KCNN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43775932_43775933del , CM000681.2:g.43775932_43775933del GRCh38
NC_000019.9:g.44280084_44280085del , CM000681.1:g.44280084_44280085del GRCh37
NC_000019.8:g.48971924_48971925del NCBI36
NG_052672.1:g.11207_11208del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648319.1:c.255+608_255+609del MANE Select ENSP00000496939.1:n.255+608_255+609del
ENST00000262888.7:c.255+608_255+609del ENSP00000262888.3:n.255+608_255+609del
ENST00000599107.1:n.286+608_286+609del
ENST00000599720.5:c.160-3830_160-3829del ENSP00000472513.1:n.160-3830_160-3829del
ENST00000615047.4:c.70+608_70+609del ENSP00000485014.1:n.70+608_70+609del
NM_002250.2:c.255+608_255+609del NP_002241.1:n.255+608_255+609del
XM_005258882.2:c.160-1314_160-1313del XP_005258939.1:n.160-1314_160-1313del
XM_005258883.2:c.70+608_70+609del XP_005258940.1:n.70+608_70+609del
XM_011526938.1:c.255+608_255+609del XP_011525240.1:n.255+608_255+609del
XR_935823.1:n.1533+608_1533+609del
XR_002958313.1:n.1533+608_1533+609del
NM_002250.3:c.255+608_255+609del MANE Select NP_002241.1:n.255+608_255+609del