Canonical Allele Identifier: CA2587925660

Gene: INSR

Linked Data

• gnomAD v4: 19-7170475-GAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170477_7170480del , CM000681.2:g.7170477_7170480del	GRCh38
NC_000019.9:g.7170488_7170491del , CM000681.1:g.7170488_7170491del	GRCh37
NC_000019.8:g.7121488_7121491del	NCBI36
NG_008852.2:g.128522_128525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1483+58_1483+61del MANE Select	ENSP00000303830.4:n.1483+58_1483+61del
ENST00000302850.9:c.1483+58_1483+61del	ENSP00000303830.4:n.1483+58_1483+61del
ENST00000341500.9:c.1483+58_1483+61del	ENSP00000342838.4:n.1483+58_1483+61del
ENST00000598216.1:n.1458+58_1458+61del
NM_000208.2:c.1483+58_1483+61del	NP_000199.2:n.1483+58_1483+61del
NM_000208.3:c.1483+58_1483+61del	NP_000199.2:n.1483+58_1483+61del
NM_001079817.1:c.1483+58_1483+61del	NP_001073285.1:n.1483+58_1483+61del
NM_001079817.2:c.1483+58_1483+61del	NP_001073285.1:n.1483+58_1483+61del
XM_011527988.1:c.1561+58_1561+61del	XP_011526290.1:n.1561+58_1561+61del
XM_011527989.1:c.1561+58_1561+61del	XP_011526291.1:n.1561+58_1561+61del
XM_011527988.2:c.1483+58_1483+61del	XP_011526290.2:n.1483+58_1483+61del
XM_011527989.3:c.1483+58_1483+61del	XP_011526291.2:n.1483+58_1483+61del
NM_000208.4:c.1483+58_1483+61del MANE Select	NP_000199.2:n.1483+58_1483+61del
NM_001079817.3:c.1483+58_1483+61del	NP_001073285.1:n.1483+58_1483+61del