Canonical Allele Identifier: CA1697470562
Gene: SCRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1786807746

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29922688_29922689insAAGGGGGACTTGTG , CM000669.2:g.29922688_29922689insAAGGGGGACTTGTG GRCh38
NC_000007.13:g.29962304_29962305insAAGGGGGACTTGTG , CM000669.1:g.29962304_29962305insAAGGGGGACTTGTG GRCh37
NC_000007.12:g.29928829_29928830insAAGGGGGACTTGTG NCBI36
NG_047114.1:g.72601_72602insCACAAGTCCCCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*1268_*1269insCACAAGTCCCCCTT MANE Select ENSP00000242059.5:n.*1268_*1269insCACAAGTCCCCCTT
ENST00000242059.9:c.*1268_*1269insCACAAGTCCCCCTT ENSP00000242059.5:n.*1268_*1269insCACAAGTCCCCCTT
ENST00000426154.5:c.*1268_*1269insCACAAGTCCCCCTT ENSP00000409068.1:n.*1268_*1269insCACAAGTCCCCCTT
NM_001145513.1:c.*1268_*1269insCACAAGTCCCCCTT NP_001138985.1:n.*1268_*1269insCACAAGTCCCCCTT
NM_001145514.1:c.*1268_*1269insCACAAGTCCCCCTT NP_001138986.1:n.*1268_*1269insCACAAGTCCCCCTT
NM_001145515.1:c.*1268_*1269insCACAAGTCCCCCTT NP_001138987.1:n.*1268_*1269insCACAAGTCCCCCTT
NM_014766.4:c.*1268_*1269insCACAAGTCCCCCTT NP_055581.3:n.*1268_*1269insCACAAGTCCCCCTT
XM_005249918.3:c.*1268_*1269insCACAAGTCCCCCTT XP_005249975.1:n.*1268_*1269insCACAAGTCCCCCTT
XM_011515653.1:c.*1268_*1269insCACAAGTCCCCCTT XP_011513955.1:n.*1268_*1269insCACAAGTCCCCCTT
XM_024447007.1:c.*1268_*1269insCACAAGTCCCCCTT XP_024302775.1:n.*1268_*1269insCACAAGTCCCCCTT
NM_014766.5:c.*1268_*1269insCACAAGTCCCCCTT MANE Select NP_055581.3:n.*1268_*1269insCACAAGTCCCCCTT
NM_001145515.2:c.*1268_*1269insCACAAGTCCCCCTT NP_001138987.1:n.*1268_*1269insCACAAGTCCCCCTT