Canonical Allele Identifier: CA9135623
Community Standard Title: NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)
Gene: INSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7150501G>A , CM000681.2:g.7150501G>A GRCh38
NC_000019.9:g.7150512G>A , CM000681.1:g.7150512G>A GRCh37
NC_000019.8:g.7101512G>A NCBI36
NG_008852.2:g.148500C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000208.4:c.2263C>T MANE Select NP_000199.2:p.Pro755Ser
ENST00000302850.10:c.2263C>T MANE Select ENSP00000303830.4:p.Pro755Ser
NM_000208.2:c.2263C>T NP_000199.2:p.Pro755Ser
NM_000208.3:c.2263C>T NP_000199.2:p.Pro755Ser
NM_001079817.1:c.2231+2225C>T NP_001073285.1:n.2231+2225C>T
NM_001079817.2:c.2231+2225C>T NP_001073285.1:n.2231+2225C>T
NM_001079817.3:c.2231+2225C>T NP_001073285.1:n.2231+2225C>T
ENST00000302850.9:c.2263C>T ENSP00000303830.4:p.Pro755Ser
ENST00000341500.9:c.2231+2225C>T ENSP00000342838.4:n.2231+2225C>T
XM_011527988.1:c.2341C>T XP_011526290.1:p.Pro781Ser
XM_011527988.2:c.2263C>T XP_011526290.2:p.Pro755Ser
XM_011527989.1:c.2309+2225C>T XP_011526291.1:n.2309+2225C>T
XM_011527989.3:c.2231+2225C>T XP_011526291.2:n.2231+2225C>T