Canonical Allele Identifier: CA2587922037

Gene: INSR

Linked Data

• gnomAD v4: 19-7125191-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125192_7125193del , CM000681.2:g.7125192_7125193del	GRCh38
NC_000019.9:g.7125203_7125204del , CM000681.1:g.7125203_7125204del	GRCh37
NC_000019.8:g.7076203_7076204del	NCBI36
NG_008852.2:g.173808_173809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3258+90_3258+91del MANE Select	ENSP00000303830.4:n.3258+90_3258+91del
ENST00000302850.9:c.3258+90_3258+91del	ENSP00000303830.4:n.3258+90_3258+91del
ENST00000341500.9:c.3222+90_3222+91del	ENSP00000342838.4:n.3222+90_3222+91del
ENST00000593970.1:n.104+90_104+91del
NM_000208.2:c.3258+90_3258+91del	NP_000199.2:n.3258+90_3258+91del
NM_000208.3:c.3258+90_3258+91del	NP_000199.2:n.3258+90_3258+91del
NM_001079817.1:c.3222+90_3222+91del	NP_001073285.1:n.3222+90_3222+91del
NM_001079817.2:c.3222+90_3222+91del	NP_001073285.1:n.3222+90_3222+91del
XM_011527988.1:c.3333+90_3333+91del	XP_011526290.1:n.3333+90_3333+91del
XM_011527989.1:c.3297+90_3297+91del	XP_011526291.1:n.3297+90_3297+91del
XM_011527988.2:c.3255+90_3255+91del	XP_011526290.2:n.3255+90_3255+91del
XM_011527989.3:c.3219+90_3219+91del	XP_011526291.2:n.3219+90_3219+91del
NM_000208.4:c.3258+90_3258+91del MANE Select	NP_000199.2:n.3258+90_3258+91del
NM_001079817.3:c.3222+90_3222+91del	NP_001073285.1:n.3222+90_3222+91del